AU2019252947A1 - Methods for detecting and suppressing alignment errors caused by fusion events - Google Patents
Methods for detecting and suppressing alignment errors caused by fusion events Download PDFInfo
- Publication number
- AU2019252947A1 AU2019252947A1 AU2019252947A AU2019252947A AU2019252947A1 AU 2019252947 A1 AU2019252947 A1 AU 2019252947A1 AU 2019252947 A AU2019252947 A AU 2019252947A AU 2019252947 A AU2019252947 A AU 2019252947A AU 2019252947 A1 AU2019252947 A1 AU 2019252947A1
- Authority
- AU
- Australia
- Prior art keywords
- sequence
- reads
- sequence reads
- nucleic acid
- breakpoint
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Abandoned
Links
- 238000000034 method Methods 0.000 title claims abstract description 184
- 230000004927 fusion Effects 0.000 title claims description 171
- 150000007523 nucleic acids Chemical class 0.000 claims abstract description 154
- 102000039446 nucleic acids Human genes 0.000 claims abstract description 150
- 108020004707 nucleic acids Proteins 0.000 claims abstract description 150
- 238000012360 testing method Methods 0.000 claims abstract description 133
- 239000002773 nucleotide Substances 0.000 claims abstract description 109
- 125000003729 nucleotide group Chemical group 0.000 claims abstract description 109
- 239000012472 biological sample Substances 0.000 claims abstract description 55
- 239000000523 sample Substances 0.000 claims description 167
- 108090000623 proteins and genes Proteins 0.000 claims description 164
- 238000012163 sequencing technique Methods 0.000 claims description 120
- 206010028980 Neoplasm Diseases 0.000 claims description 116
- 230000002068 genetic effect Effects 0.000 claims description 116
- 108091008077 processed pseudogenes Proteins 0.000 claims description 81
- 201000011510 cancer Diseases 0.000 claims description 61
- 108020004414 DNA Proteins 0.000 claims description 57
- 102000053602 DNA Human genes 0.000 claims description 56
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 claims description 52
- 108091028043 Nucleic acid sequence Proteins 0.000 claims description 36
- -1 TYR03 Proteins 0.000 claims description 32
- 201000010099 disease Diseases 0.000 claims description 32
- 102000040430 polynucleotide Human genes 0.000 claims description 23
- 108091033319 polynucleotide Proteins 0.000 claims description 23
- 239000002157 polynucleotide Substances 0.000 claims description 23
- 102100025725 Mothers against decapentaplegic homolog 4 Human genes 0.000 claims description 20
- 101710143112 Mothers against decapentaplegic homolog 4 Proteins 0.000 claims description 20
- 208000035475 disorder Diseases 0.000 claims description 20
- 108700028369 Alleles Proteins 0.000 claims description 19
- 101000967216 Homo sapiens Eosinophil cationic protein Proteins 0.000 claims description 18
- 101000712530 Homo sapiens RAF proto-oncogene serine/threonine-protein kinase Proteins 0.000 claims description 18
- 102100033479 RAF proto-oncogene serine/threonine-protein kinase Human genes 0.000 claims description 17
- 102000015098 Tumor Suppressor Protein p53 Human genes 0.000 claims description 15
- 108010078814 Tumor Suppressor Protein p53 Proteins 0.000 claims description 15
- 238000001914 filtration Methods 0.000 claims description 15
- 210000001124 body fluid Anatomy 0.000 claims description 13
- 108091026890 Coding region Proteins 0.000 claims description 12
- 102100029974 GTPase HRas Human genes 0.000 claims description 10
- 102100032610 Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas Human genes 0.000 claims description 10
- 101000584633 Homo sapiens GTPase HRas Proteins 0.000 claims description 10
- 101001014590 Homo sapiens Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas Proteins 0.000 claims description 10
- 101001014594 Homo sapiens Guanine nucleotide-binding protein G(s) subunit alpha isoforms short Proteins 0.000 claims description 10
- 101001014610 Homo sapiens Neuroendocrine secretory protein 55 Proteins 0.000 claims description 10
- 101000797903 Homo sapiens Protein ALEX Proteins 0.000 claims description 10
- 108010058546 Cyclin D1 Proteins 0.000 claims description 9
- 108010025464 Cyclin-Dependent Kinase 4 Proteins 0.000 claims description 9
- 102100036252 Cyclin-dependent kinase 4 Human genes 0.000 claims description 9
- 101001052493 Homo sapiens Mitogen-activated protein kinase 1 Proteins 0.000 claims description 9
- 101000628562 Homo sapiens Serine/threonine-protein kinase STK11 Proteins 0.000 claims description 9
- 102100024193 Mitogen-activated protein kinase 1 Human genes 0.000 claims description 9
- 102100026715 Serine/threonine-protein kinase STK11 Human genes 0.000 claims description 9
- 210000004369 blood Anatomy 0.000 claims description 9
- 239000008280 blood Substances 0.000 claims description 9
- 238000012217 deletion Methods 0.000 claims description 9
- 230000037430 deletion Effects 0.000 claims description 9
- 210000002381 plasma Anatomy 0.000 claims description 9
- 102100039788 GTPase NRas Human genes 0.000 claims description 8
- 101000744505 Homo sapiens GTPase NRas Proteins 0.000 claims description 8
- 108091034117 Oligonucleotide Proteins 0.000 claims description 7
- 210000002700 urine Anatomy 0.000 claims description 7
- 238000003780 insertion Methods 0.000 claims description 6
- 230000037431 insertion Effects 0.000 claims description 6
- 210000002966 serum Anatomy 0.000 claims description 6
- 206010036790 Productive cough Diseases 0.000 claims description 5
- 210000003296 saliva Anatomy 0.000 claims description 5
- 210000003802 sputum Anatomy 0.000 claims description 5
- 208000024794 sputum Diseases 0.000 claims description 5
- 230000002776 aggregation Effects 0.000 claims description 3
- 238000004220 aggregation Methods 0.000 claims description 3
- 230000029142 excretion Effects 0.000 claims description 3
- 238000004519 manufacturing process Methods 0.000 claims description 2
- 102100024165 G1/S-specific cyclin-D1 Human genes 0.000 claims 3
- JJWKPURADFRFRB-UHFFFAOYSA-N carbonyl sulfide Chemical compound O=C=S JJWKPURADFRFRB-UHFFFAOYSA-N 0.000 claims 1
- 230000015654 memory Effects 0.000 description 40
- 108700024394 Exon Proteins 0.000 description 36
- 238000001514 detection method Methods 0.000 description 31
- 238000012545 processing Methods 0.000 description 30
- 239000000439 tumor marker Substances 0.000 description 29
- 238000003860 storage Methods 0.000 description 25
- 102000037982 Immune checkpoint proteins Human genes 0.000 description 20
- 108091008036 Immune checkpoint proteins Proteins 0.000 description 20
- 238000003199 nucleic acid amplification method Methods 0.000 description 20
- 230000003321 amplification Effects 0.000 description 18
- 229940126546 immune checkpoint molecule Drugs 0.000 description 17
- 230000035772 mutation Effects 0.000 description 17
- 210000001519 tissue Anatomy 0.000 description 17
- 238000006243 chemical reaction Methods 0.000 description 15
- 229920002477 rna polymer Polymers 0.000 description 14
- 230000035945 sensitivity Effects 0.000 description 13
- 210000004027 cell Anatomy 0.000 description 12
- 238000004891 communication Methods 0.000 description 12
- 239000012634 fragment Substances 0.000 description 11
- 230000002401 inhibitory effect Effects 0.000 description 11
- 230000000670 limiting effect Effects 0.000 description 11
- 238000004458 analytical method Methods 0.000 description 10
- 235000019506 cigar Nutrition 0.000 description 10
- OPTASPLRGRRNAP-UHFFFAOYSA-N cytosine Chemical compound NC=1C=CNC(=O)N=1 OPTASPLRGRRNAP-UHFFFAOYSA-N 0.000 description 10
- 230000000392 somatic effect Effects 0.000 description 10
- 238000002560 therapeutic procedure Methods 0.000 description 10
- 101000914484 Homo sapiens T-lymphocyte activation antigen CD80 Proteins 0.000 description 9
- 102100027222 T-lymphocyte activation antigen CD80 Human genes 0.000 description 9
- 230000000295 complement effect Effects 0.000 description 9
- 108091008109 Pseudogenes Proteins 0.000 description 8
- 102000057361 Pseudogenes Human genes 0.000 description 8
- ISAKRJDGNUQOIC-UHFFFAOYSA-N Uracil Chemical compound O=C1C=CNC(=O)N1 ISAKRJDGNUQOIC-UHFFFAOYSA-N 0.000 description 8
- 210000000349 chromosome Anatomy 0.000 description 8
- UYTPUPDQBNUYGX-UHFFFAOYSA-N guanine Chemical compound O=C1NC(N)=NC2=C1N=CN2 UYTPUPDQBNUYGX-UHFFFAOYSA-N 0.000 description 8
- 230000003287 optical effect Effects 0.000 description 8
- 101710089372 Programmed cell death protein 1 Proteins 0.000 description 7
- 239000000556 agonist Substances 0.000 description 7
- 239000002955 immunomodulating agent Substances 0.000 description 7
- 238000009169 immunotherapy Methods 0.000 description 7
- 238000007481 next generation sequencing Methods 0.000 description 7
- 102000006311 Cyclin D1 Human genes 0.000 description 6
- 102100039498 Cytotoxic T-lymphocyte protein 4 Human genes 0.000 description 6
- 101000889276 Homo sapiens Cytotoxic T-lymphocyte protein 4 Proteins 0.000 description 6
- 238000010586 diagram Methods 0.000 description 6
- 210000004602 germ cell Anatomy 0.000 description 6
- 230000001965 increasing effect Effects 0.000 description 6
- 230000008569 process Effects 0.000 description 6
- RWQNBRDOKXIBIV-UHFFFAOYSA-N thymine Chemical compound CC1=CNC(=O)NC1=O RWQNBRDOKXIBIV-UHFFFAOYSA-N 0.000 description 6
- 206010006187 Breast cancer Diseases 0.000 description 5
- 208000026310 Breast neoplasm Diseases 0.000 description 5
- 101001137987 Homo sapiens Lymphocyte activation gene 3 protein Proteins 0.000 description 5
- 101000914514 Homo sapiens T-cell-specific surface glycoprotein CD28 Proteins 0.000 description 5
- 102100020862 Lymphocyte activation gene 3 protein Human genes 0.000 description 5
- 230000005867 T cell response Effects 0.000 description 5
- 102100027213 T-cell-specific surface glycoprotein CD28 Human genes 0.000 description 5
- 210000001744 T-lymphocyte Anatomy 0.000 description 5
- 239000005557 antagonist Substances 0.000 description 5
- 239000000427 antigen Substances 0.000 description 5
- 108091007433 antigens Proteins 0.000 description 5
- 102000036639 antigens Human genes 0.000 description 5
- 229940104302 cytosine Drugs 0.000 description 5
- 230000006870 function Effects 0.000 description 5
- 239000003446 ligand Substances 0.000 description 5
- 230000001404 mediated effect Effects 0.000 description 5
- 239000007787 solid Substances 0.000 description 5
- 238000003786 synthesis reaction Methods 0.000 description 5
- 238000012070 whole genome sequencing analysis Methods 0.000 description 5
- 229920001621 AMOLED Polymers 0.000 description 4
- 206010069754 Acquired gene mutation Diseases 0.000 description 4
- 229930024421 Adenine Natural products 0.000 description 4
- GFFGJBXGBJISGV-UHFFFAOYSA-N Adenine Chemical compound NC1=NC=NC2=C1N=CN2 GFFGJBXGBJISGV-UHFFFAOYSA-N 0.000 description 4
- 108091093088 Amplicon Proteins 0.000 description 4
- 108010074708 B7-H1 Antigen Proteins 0.000 description 4
- 102100031351 Galectin-9 Human genes 0.000 description 4
- 101710121810 Galectin-9 Proteins 0.000 description 4
- 102100034458 Hepatitis A virus cellular receptor 2 Human genes 0.000 description 4
- 102000002698 KIR Receptors Human genes 0.000 description 4
- 108010043610 KIR Receptors Proteins 0.000 description 4
- 241001465754 Metazoa Species 0.000 description 4
- 101100407308 Mus musculus Pdcd1lg2 gene Proteins 0.000 description 4
- 108700030875 Programmed Cell Death 1 Ligand 2 Proteins 0.000 description 4
- 102100024216 Programmed cell death 1 ligand 1 Human genes 0.000 description 4
- 102100024213 Programmed cell death 1 ligand 2 Human genes 0.000 description 4
- VYPSYNLAJGMNEJ-UHFFFAOYSA-N Silicium dioxide Chemical compound O=[Si]=O VYPSYNLAJGMNEJ-UHFFFAOYSA-N 0.000 description 4
- 229960000643 adenine Drugs 0.000 description 4
- 238000013459 approach Methods 0.000 description 4
- 230000001413 cellular effect Effects 0.000 description 4
- 230000001684 chronic effect Effects 0.000 description 4
- 238000013500 data storage Methods 0.000 description 4
- 230000000694 effects Effects 0.000 description 4
- 238000005516 engineering process Methods 0.000 description 4
- 239000012530 fluid Substances 0.000 description 4
- 108020001507 fusion proteins Proteins 0.000 description 4
- 102000037865 fusion proteins Human genes 0.000 description 4
- 238000012165 high-throughput sequencing Methods 0.000 description 4
- 238000009396 hybridization Methods 0.000 description 4
- 108020004999 messenger RNA Proteins 0.000 description 4
- 230000037439 somatic mutation Effects 0.000 description 4
- 206010044412 transitional cell carcinoma Diseases 0.000 description 4
- 238000011282 treatment Methods 0.000 description 4
- 229940035893 uracil Drugs 0.000 description 4
- 101150051188 Adora2a gene Proteins 0.000 description 3
- 206010009944 Colon cancer Diseases 0.000 description 3
- 101001068133 Homo sapiens Hepatitis A virus cellular receptor 2 Proteins 0.000 description 3
- 108091007412 Piwi-interacting RNA Proteins 0.000 description 3
- 108700009124 Transcription Initiation Site Proteins 0.000 description 3
- 238000003556 assay Methods 0.000 description 3
- 201000009036 biliary tract cancer Diseases 0.000 description 3
- 208000020790 biliary tract neoplasm Diseases 0.000 description 3
- 238000003766 bioinformatics method Methods 0.000 description 3
- 230000005540 biological transmission Effects 0.000 description 3
- 238000001574 biopsy Methods 0.000 description 3
- 210000001175 cerebrospinal fluid Anatomy 0.000 description 3
- 238000004590 computer program Methods 0.000 description 3
- 238000007405 data analysis Methods 0.000 description 3
- 201000011243 gastrointestinal stromal tumor Diseases 0.000 description 3
- 230000014509 gene expression Effects 0.000 description 3
- 206010073071 hepatocellular carcinoma Diseases 0.000 description 3
- 239000004973 liquid crystal related substance Substances 0.000 description 3
- 230000033001 locomotion Effects 0.000 description 3
- 230000007246 mechanism Effects 0.000 description 3
- 239000002777 nucleoside Substances 0.000 description 3
- 125000003835 nucleoside group Chemical group 0.000 description 3
- 230000002093 peripheral effect Effects 0.000 description 3
- 238000012175 pyrosequencing Methods 0.000 description 3
- 230000001105 regulatory effect Effects 0.000 description 3
- 239000004065 semiconductor Substances 0.000 description 3
- 238000002864 sequence alignment Methods 0.000 description 3
- 238000007841 sequencing by ligation Methods 0.000 description 3
- 239000004055 small Interfering RNA Substances 0.000 description 3
- 208000024891 symptom Diseases 0.000 description 3
- 230000001225 therapeutic effect Effects 0.000 description 3
- 229940113082 thymine Drugs 0.000 description 3
- 238000013518 transcription Methods 0.000 description 3
- 230000035897 transcription Effects 0.000 description 3
- YBJHBAHKTGYVGT-ZKWXMUAHSA-N (+)-Biotin Chemical compound N1C(=O)N[C@@H]2[C@H](CCCCC(=O)O)SC[C@@H]21 YBJHBAHKTGYVGT-ZKWXMUAHSA-N 0.000 description 2
- 240000005020 Acaciella glauca Species 0.000 description 2
- 208000024893 Acute lymphoblastic leukemia Diseases 0.000 description 2
- 208000014697 Acute lymphocytic leukaemia Diseases 0.000 description 2
- 108091061744 Cell-free fetal DNA Proteins 0.000 description 2
- 208000001333 Colorectal Neoplasms Diseases 0.000 description 2
- 108020004635 Complementary DNA Proteins 0.000 description 2
- 206010051066 Gastrointestinal stromal tumour Diseases 0.000 description 2
- 108700039691 Genetic Promoter Regions Proteins 0.000 description 2
- NYHBQMYGNKIUIF-UUOKFMHZSA-N Guanosine Chemical compound C1=NC=2C(=O)NC(N)=NC=2N1[C@@H]1O[C@H](CO)[C@@H](O)[C@H]1O NYHBQMYGNKIUIF-UUOKFMHZSA-N 0.000 description 2
- 208000031220 Hemophilia Diseases 0.000 description 2
- 208000009292 Hemophilia A Diseases 0.000 description 2
- 102000053646 Inducible T-Cell Co-Stimulator Human genes 0.000 description 2
- 108700013161 Inducible T-Cell Co-Stimulator Proteins 0.000 description 2
- 108091092195 Intron Proteins 0.000 description 2
- KFZMGEQAYNKOFK-UHFFFAOYSA-N Isopropanol Chemical compound CC(C)O KFZMGEQAYNKOFK-UHFFFAOYSA-N 0.000 description 2
- 206010058467 Lung neoplasm malignant Diseases 0.000 description 2
- 208000002454 Nasopharyngeal Carcinoma Diseases 0.000 description 2
- 206010061306 Nasopharyngeal cancer Diseases 0.000 description 2
- 208000015914 Non-Hodgkin lymphomas Diseases 0.000 description 2
- 108010047956 Nucleosomes Proteins 0.000 description 2
- 102000004473 OX40 Ligand Human genes 0.000 description 2
- 108010042215 OX40 Ligand Proteins 0.000 description 2
- 208000006664 Precursor Cell Lymphoblastic Leukemia-Lymphoma Diseases 0.000 description 2
- 238000003559 RNA-seq method Methods 0.000 description 2
- 208000006265 Renal cell carcinoma Diseases 0.000 description 2
- 108020004682 Single-Stranded DNA Proteins 0.000 description 2
- 108020003224 Small Nucleolar RNA Proteins 0.000 description 2
- 102000042773 Small Nucleolar RNA Human genes 0.000 description 2
- 230000006044 T cell activation Effects 0.000 description 2
- 108091008874 T cell receptors Proteins 0.000 description 2
- 102000016266 T-Cell Antigen Receptors Human genes 0.000 description 2
- 208000002903 Thalassemia Diseases 0.000 description 2
- IQFYYKKMVGJFEH-XLPZGREQSA-N Thymidine Chemical compound O=C1NC(=O)C(C)=CN1[C@@H]1O[C@H](CO)[C@@H](O)C1 IQFYYKKMVGJFEH-XLPZGREQSA-N 0.000 description 2
- 108020004566 Transfer RNA Proteins 0.000 description 2
- JLCPHMBAVCMARE-UHFFFAOYSA-N [3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-hydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methyl [5-(6-aminopurin-9-yl)-2-(hydroxymethyl)oxolan-3-yl] hydrogen phosphate Polymers Cc1cn(C2CC(OP(O)(=O)OCC3OC(CC3OP(O)(=O)OCC3OC(CC3O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c3nc(N)[nH]c4=O)C(COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3CO)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cc(C)c(=O)[nH]c3=O)n3cc(C)c(=O)[nH]c3=O)n3ccc(N)nc3=O)n3cc(C)c(=O)[nH]c3=O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)O2)c(=O)[nH]c1=O JLCPHMBAVCMARE-UHFFFAOYSA-N 0.000 description 2
- OIRDTQYFTABQOQ-KQYNXXCUSA-N adenosine Chemical compound C1=NC=2C(N)=NC=NC=2N1[C@@H]1O[C@H](CO)[C@@H](O)[C@H]1O OIRDTQYFTABQOQ-KQYNXXCUSA-N 0.000 description 2
- 210000000612 antigen-presenting cell Anatomy 0.000 description 2
- 229950002916 avelumab Drugs 0.000 description 2
- 230000015572 biosynthetic process Effects 0.000 description 2
- 239000010839 body fluid Substances 0.000 description 2
- 238000010804 cDNA synthesis Methods 0.000 description 2
- 239000002299 complementary DNA Substances 0.000 description 2
- 238000004925 denaturation Methods 0.000 description 2
- 230000036425 denaturation Effects 0.000 description 2
- 239000005549 deoxyribonucleoside Substances 0.000 description 2
- 238000003745 diagnosis Methods 0.000 description 2
- 239000003814 drug Substances 0.000 description 2
- 229950009791 durvalumab Drugs 0.000 description 2
- 230000002708 enhancing effect Effects 0.000 description 2
- 210000003722 extracellular fluid Anatomy 0.000 description 2
- 238000007672 fourth generation sequencing Methods 0.000 description 2
- 206010017758 gastric cancer Diseases 0.000 description 2
- 230000036541 health Effects 0.000 description 2
- 210000000987 immune system Anatomy 0.000 description 2
- 150000002500 ions Chemical class 0.000 description 2
- 238000005304 joining Methods 0.000 description 2
- 210000004072 lung Anatomy 0.000 description 2
- 201000005202 lung cancer Diseases 0.000 description 2
- 208000020816 lung neoplasm Diseases 0.000 description 2
- 230000001926 lymphatic effect Effects 0.000 description 2
- 238000013507 mapping Methods 0.000 description 2
- 201000001441 melanoma Diseases 0.000 description 2
- 239000002679 microRNA Substances 0.000 description 2
- 238000012544 monitoring process Methods 0.000 description 2
- 201000011216 nasopharynx carcinoma Diseases 0.000 description 2
- 229960003301 nivolumab Drugs 0.000 description 2
- 208000002154 non-small cell lung carcinoma Diseases 0.000 description 2
- 210000001623 nucleosome Anatomy 0.000 description 2
- 239000002674 ointment Substances 0.000 description 2
- 230000036961 partial effect Effects 0.000 description 2
- 230000037361 pathway Effects 0.000 description 2
- 229960002621 pembrolizumab Drugs 0.000 description 2
- 238000004393 prognosis Methods 0.000 description 2
- 235000003499 redwood Nutrition 0.000 description 2
- 238000011160 research Methods 0.000 description 2
- 238000010839 reverse transcription Methods 0.000 description 2
- 230000002441 reversible effect Effects 0.000 description 2
- 239000002342 ribonucleoside Substances 0.000 description 2
- 210000000582 semen Anatomy 0.000 description 2
- 208000007056 sickle cell anemia Diseases 0.000 description 2
- 230000011664 signaling Effects 0.000 description 2
- 239000000377 silicon dioxide Substances 0.000 description 2
- 238000000638 solvent extraction Methods 0.000 description 2
- 241000894007 species Species 0.000 description 2
- 238000006467 substitution reaction Methods 0.000 description 2
- 229940124597 therapeutic agent Drugs 0.000 description 2
- 230000000699 topical effect Effects 0.000 description 2
- 208000029729 tumor suppressor gene on chromosome 11 Diseases 0.000 description 2
- 208000023747 urothelial carcinoma Diseases 0.000 description 2
- 230000000007 visual effect Effects 0.000 description 2
- 208000010543 22q11.2 deletion syndrome Diseases 0.000 description 1
- 102100023990 60S ribosomal protein L17 Human genes 0.000 description 1
- 101150058202 73 gene Proteins 0.000 description 1
- 102100033793 ALK tyrosine kinase receptor Human genes 0.000 description 1
- 208000031261 Acute myeloid leukaemia Diseases 0.000 description 1
- 208000036764 Adenocarcinoma of the esophagus Diseases 0.000 description 1
- 102000007471 Adenosine A2A receptor Human genes 0.000 description 1
- 108010085277 Adenosine A2A receptor Proteins 0.000 description 1
- 208000002485 Adiposis dolorosa Diseases 0.000 description 1
- 208000003343 Antiphospholipid Syndrome Diseases 0.000 description 1
- 206010003445 Ascites Diseases 0.000 description 1
- 206010003571 Astrocytoma Diseases 0.000 description 1
- 206010003805 Autism Diseases 0.000 description 1
- 208000020706 Autistic disease Diseases 0.000 description 1
- 208000010061 Autosomal Dominant Polycystic Kidney Diseases 0.000 description 1
- 241000271566 Aves Species 0.000 description 1
- 208000003950 B-cell lymphoma Diseases 0.000 description 1
- DWRXFEITVBNRMK-UHFFFAOYSA-N Beta-D-1-Arabinofuranosylthymine Natural products O=C1NC(=O)C(C)=CN1C1C(O)C(O)C(CO)O1 DWRXFEITVBNRMK-UHFFFAOYSA-N 0.000 description 1
- 206010005003 Bladder cancer Diseases 0.000 description 1
- 206010005176 Blindness congenital Diseases 0.000 description 1
- 208000019838 Blood disease Diseases 0.000 description 1
- 208000003174 Brain Neoplasms Diseases 0.000 description 1
- 239000002126 C01EB10 - Adenosine Substances 0.000 description 1
- 102100027207 CD27 antigen Human genes 0.000 description 1
- 102100038078 CD276 antigen Human genes 0.000 description 1
- 101710185679 CD276 antigen Proteins 0.000 description 1
- 102100025221 CD70 antigen Human genes 0.000 description 1
- 201000009030 Carcinoma Diseases 0.000 description 1
- 208000010667 Carcinoma of liver and intrahepatic biliary tract Diseases 0.000 description 1
- 206010008342 Cervix carcinoma Diseases 0.000 description 1
- 206010008723 Chondrodystrophy Diseases 0.000 description 1
- 208000030808 Clear cell renal carcinoma Diseases 0.000 description 1
- 108020004705 Codon Proteins 0.000 description 1
- 206010052360 Colorectal adenocarcinoma Diseases 0.000 description 1
- 206010010099 Combined immunodeficiency Diseases 0.000 description 1
- 108091035707 Consensus sequence Proteins 0.000 description 1
- RYGMFSIKBFXOCR-UHFFFAOYSA-N Copper Chemical compound [Cu] RYGMFSIKBFXOCR-UHFFFAOYSA-N 0.000 description 1
- 102000012437 Copper-Transporting ATPases Human genes 0.000 description 1
- 108091029523 CpG island Proteins 0.000 description 1
- 208000011231 Crohn disease Diseases 0.000 description 1
- MIKUYHXYGGJMLM-GIMIYPNGSA-N Crotonoside Natural products C1=NC2=C(N)NC(=O)N=C2N1[C@H]1O[C@@H](CO)[C@H](O)[C@@H]1O MIKUYHXYGGJMLM-GIMIYPNGSA-N 0.000 description 1
- 201000003883 Cystic fibrosis Diseases 0.000 description 1
- NYHBQMYGNKIUIF-UHFFFAOYSA-N D-guanosine Natural products C1=2NC(N)=NC(=O)C=2N=CN1C1OC(CO)C(O)C1O NYHBQMYGNKIUIF-UHFFFAOYSA-N 0.000 description 1
- 201000010374 Down Syndrome Diseases 0.000 description 1
- 201000000913 Duane retraction syndrome Diseases 0.000 description 1
- 208000020129 Duane syndrome Diseases 0.000 description 1
- 206010013801 Duchenne Muscular Dystrophy Diseases 0.000 description 1
- 206010014733 Endometrial cancer Diseases 0.000 description 1
- 206010014759 Endometrial neoplasm Diseases 0.000 description 1
- 102000004190 Enzymes Human genes 0.000 description 1
- 108090000790 Enzymes Proteins 0.000 description 1
- 208000000461 Esophageal Neoplasms Diseases 0.000 description 1
- LFQSCWFLJHTTHZ-UHFFFAOYSA-N Ethanol Chemical compound CCO LFQSCWFLJHTTHZ-UHFFFAOYSA-N 0.000 description 1
- 108060002716 Exonuclease Proteins 0.000 description 1
- 206010016207 Familial Mediterranean fever Diseases 0.000 description 1
- 102100023600 Fibroblast growth factor receptor 2 Human genes 0.000 description 1
- 101710182389 Fibroblast growth factor receptor 2 Proteins 0.000 description 1
- 102100027842 Fibroblast growth factor receptor 3 Human genes 0.000 description 1
- 101710182396 Fibroblast growth factor receptor 3 Proteins 0.000 description 1
- 238000000729 Fisher's exact test Methods 0.000 description 1
- 208000001914 Fragile X syndrome Diseases 0.000 description 1
- 208000015872 Gaucher disease Diseases 0.000 description 1
- 206010018338 Glioma Diseases 0.000 description 1
- 208000018565 Hemochromatosis Diseases 0.000 description 1
- 206010073069 Hepatic cancer Diseases 0.000 description 1
- 101710083479 Hepatitis A virus cellular receptor 2 homolog Proteins 0.000 description 1
- 208000002972 Hepatolenticular Degeneration Diseases 0.000 description 1
- 208000008051 Hereditary Nonpolyposis Colorectal Neoplasms Diseases 0.000 description 1
- 208000017095 Hereditary nonpolyposis colon cancer Diseases 0.000 description 1
- 102100035108 High affinity nerve growth factor receptor Human genes 0.000 description 1
- 101000779641 Homo sapiens ALK tyrosine kinase receptor Proteins 0.000 description 1
- 101000914511 Homo sapiens CD27 antigen Proteins 0.000 description 1
- 101000934356 Homo sapiens CD70 antigen Proteins 0.000 description 1
- 101000596894 Homo sapiens High affinity nerve growth factor receptor Proteins 0.000 description 1
- 101001019455 Homo sapiens ICOS ligand Proteins 0.000 description 1
- 101000605639 Homo sapiens Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform Proteins 0.000 description 1
- 101000686031 Homo sapiens Proto-oncogene tyrosine-protein kinase ROS Proteins 0.000 description 1
- 101000579425 Homo sapiens Proto-oncogene tyrosine-protein kinase receptor Ret Proteins 0.000 description 1
- 101000632056 Homo sapiens Septin-9 Proteins 0.000 description 1
- 101000934888 Homo sapiens Succinate dehydrogenase cytochrome b560 subunit, mitochondrial Proteins 0.000 description 1
- 101000638251 Homo sapiens Tumor necrosis factor ligand superfamily member 9 Proteins 0.000 description 1
- 208000023105 Huntington disease Diseases 0.000 description 1
- 208000025500 Hutchinson-Gilford progeria syndrome Diseases 0.000 description 1
- 206010020608 Hypercoagulation Diseases 0.000 description 1
- 208000000563 Hyperlipoproteinemia Type II Diseases 0.000 description 1
- 102100034980 ICOS ligand Human genes 0.000 description 1
- 208000026350 Inborn Genetic disease Diseases 0.000 description 1
- 102100034343 Integrase Human genes 0.000 description 1
- 208000017924 Klinefelter Syndrome Diseases 0.000 description 1
- 208000031671 Large B-Cell Diffuse Lymphoma Diseases 0.000 description 1
- 108091026898 Leader sequence (mRNA) Proteins 0.000 description 1
- 108020005198 Long Noncoding RNA Proteins 0.000 description 1
- 102100024640 Low-density lipoprotein receptor Human genes 0.000 description 1
- 201000005027 Lynch syndrome Diseases 0.000 description 1
- 208000015439 Lysosomal storage disease Diseases 0.000 description 1
- 241000124008 Mammalia Species 0.000 description 1
- 208000025205 Mantle-Cell Lymphoma Diseases 0.000 description 1
- 208000001826 Marfan syndrome Diseases 0.000 description 1
- 241000252067 Megalops atlanticus Species 0.000 description 1
- 206010027406 Mesothelioma Diseases 0.000 description 1
- 108700011259 MicroRNAs Proteins 0.000 description 1
- 108020005196 Mitochondrial DNA Proteins 0.000 description 1
- 208000034578 Multiple myelomas Diseases 0.000 description 1
- 206010068871 Myotonic dystrophy Diseases 0.000 description 1
- 206010029260 Neuroblastoma Diseases 0.000 description 1
- 208000009905 Neurofibromatoses Diseases 0.000 description 1
- 206010029748 Noonan syndrome Diseases 0.000 description 1
- 206010030137 Oesophageal adenocarcinoma Diseases 0.000 description 1
- 206010030155 Oesophageal carcinoma Diseases 0.000 description 1
- 206010061534 Oesophageal squamous cell carcinoma Diseases 0.000 description 1
- 108020005187 Oligonucleotide Probes Proteins 0.000 description 1
- 206010031096 Oropharyngeal cancer Diseases 0.000 description 1
- 206010057444 Oropharyngeal neoplasm Diseases 0.000 description 1
- 101100154895 Oryzias latipes tyr gene Proteins 0.000 description 1
- 206010031243 Osteogenesis imperfecta Diseases 0.000 description 1
- 206010033128 Ovarian cancer Diseases 0.000 description 1
- 238000012408 PCR amplification Methods 0.000 description 1
- 108010011536 PTEN Phosphohydrolase Proteins 0.000 description 1
- 102000014160 PTEN Phosphohydrolase Human genes 0.000 description 1
- 206010061902 Pancreatic neoplasm Diseases 0.000 description 1
- 208000018737 Parkinson disease Diseases 0.000 description 1
- 208000027190 Peripheral T-cell lymphomas Diseases 0.000 description 1
- 201000011252 Phenylketonuria Diseases 0.000 description 1
- 102100038332 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform Human genes 0.000 description 1
- 206010035226 Plasma cell myeloma Diseases 0.000 description 1
- 208000002151 Pleural effusion Diseases 0.000 description 1
- 208000019222 Poland syndrome Diseases 0.000 description 1
- 241000097929 Porphyria Species 0.000 description 1
- 208000010642 Porphyrias Diseases 0.000 description 1
- 208000032758 Precursor T-lymphoblastic lymphoma/leukaemia Diseases 0.000 description 1
- 241000288906 Primates Species 0.000 description 1
- 208000007932 Progeria Diseases 0.000 description 1
- 206010060862 Prostate cancer Diseases 0.000 description 1
- 208000000236 Prostatic Neoplasms Diseases 0.000 description 1
- 102100023347 Proto-oncogene tyrosine-protein kinase ROS Human genes 0.000 description 1
- 102100028286 Proto-oncogene tyrosine-protein kinase receptor Ret Human genes 0.000 description 1
- 108010092799 RNA-directed DNA polymerase Proteins 0.000 description 1
- 208000015634 Rectal Neoplasms Diseases 0.000 description 1
- 108091081062 Repeated sequence (DNA) Proteins 0.000 description 1
- 208000007660 Residual Neoplasm Diseases 0.000 description 1
- 208000007014 Retinitis pigmentosa Diseases 0.000 description 1
- 102100028024 Septin-9 Human genes 0.000 description 1
- 238000012300 Sequence Analysis Methods 0.000 description 1
- 208000000453 Skin Neoplasms Diseases 0.000 description 1
- 108020004459 Small interfering RNA Proteins 0.000 description 1
- 206010054184 Small intestine carcinoma Diseases 0.000 description 1
- 208000000102 Squamous Cell Carcinoma of Head and Neck Diseases 0.000 description 1
- 208000034254 Squamous cell carcinoma of the cervix uteri Diseases 0.000 description 1
- 208000036765 Squamous cell carcinoma of the esophagus Diseases 0.000 description 1
- 208000005718 Stomach Neoplasms Diseases 0.000 description 1
- 102100025393 Succinate dehydrogenase cytochrome b560 subunit, mitochondrial Human genes 0.000 description 1
- 208000031672 T-Cell Peripheral Lymphoma Diseases 0.000 description 1
- 208000029052 T-cell acute lymphoblastic leukemia Diseases 0.000 description 1
- 206010042971 T-cell lymphoma Diseases 0.000 description 1
- 108091046869 Telomeric non-coding RNA Proteins 0.000 description 1
- 108091036066 Three prime untranslated region Proteins 0.000 description 1
- 206010068233 Trimethylaminuria Diseases 0.000 description 1
- 102000044209 Tumor Suppressor Genes Human genes 0.000 description 1
- 108700025716 Tumor Suppressor Genes Proteins 0.000 description 1
- 102100032101 Tumor necrosis factor ligand superfamily member 9 Human genes 0.000 description 1
- 208000026928 Turner syndrome Diseases 0.000 description 1
- 206010045261 Type IIa hyperlipidaemia Diseases 0.000 description 1
- 208000007097 Urinary Bladder Neoplasms Diseases 0.000 description 1
- 208000006105 Uterine Cervical Neoplasms Diseases 0.000 description 1
- 208000002495 Uterine Neoplasms Diseases 0.000 description 1
- 201000005969 Uveal melanoma Diseases 0.000 description 1
- 108010079206 V-Set Domain-Containing T-Cell Activation Inhibitor 1 Proteins 0.000 description 1
- 102100038929 V-set domain-containing T-cell activation inhibitor 1 Human genes 0.000 description 1
- 241000251539 Vertebrata <Metazoa> Species 0.000 description 1
- 241000700605 Viruses Species 0.000 description 1
- 201000007960 WAGR syndrome Diseases 0.000 description 1
- 208000008383 Wilms tumor Diseases 0.000 description 1
- 208000018839 Wilson disease Diseases 0.000 description 1
- 208000008919 achondroplasia Diseases 0.000 description 1
- 208000006336 acinar cell carcinoma Diseases 0.000 description 1
- 230000003213 activating effect Effects 0.000 description 1
- 229960005305 adenosine Drugs 0.000 description 1
- 208000006682 alpha 1-Antitrypsin Deficiency Diseases 0.000 description 1
- 230000004075 alteration Effects 0.000 description 1
- 238000000137 annealing Methods 0.000 description 1
- 230000005809 anti-tumor immunity Effects 0.000 description 1
- 230000005975 antitumor immune response Effects 0.000 description 1
- 230000006907 apoptotic process Effects 0.000 description 1
- 239000007900 aqueous suspension Substances 0.000 description 1
- 229960003852 atezolizumab Drugs 0.000 description 1
- 208000022185 autosomal dominant polycystic kidney disease Diseases 0.000 description 1
- 239000011324 bead Substances 0.000 description 1
- IQFYYKKMVGJFEH-UHFFFAOYSA-N beta-L-thymidine Natural products O=C1NC(=O)C(C)=CN1C1OC(CO)C(O)C1 IQFYYKKMVGJFEH-UHFFFAOYSA-N 0.000 description 1
- 239000013060 biological fluid Substances 0.000 description 1
- 229960002685 biotin Drugs 0.000 description 1
- 235000020958 biotin Nutrition 0.000 description 1
- 239000011616 biotin Substances 0.000 description 1
- 210000001772 blood platelet Anatomy 0.000 description 1
- 210000001185 bone marrow Anatomy 0.000 description 1
- 201000008275 breast carcinoma Diseases 0.000 description 1
- 239000000872 buffer Substances 0.000 description 1
- 238000005251 capillar electrophoresis Methods 0.000 description 1
- 239000002775 capsule Substances 0.000 description 1
- 230000030833 cell death Effects 0.000 description 1
- 238000005119 centrifugation Methods 0.000 description 1
- 201000010881 cervical cancer Diseases 0.000 description 1
- 201000006612 cervical squamous cell carcinoma Diseases 0.000 description 1
- 239000003153 chemical reaction reagent Substances 0.000 description 1
- 239000003795 chemical substances by application Substances 0.000 description 1
- 238000002512 chemotherapy Methods 0.000 description 1
- 238000000546 chi-square test Methods 0.000 description 1
- 208000006990 cholangiocarcinoma Diseases 0.000 description 1
- 206010073251 clear cell renal cell carcinoma Diseases 0.000 description 1
- 208000029742 colonic neoplasm Diseases 0.000 description 1
- 201000010989 colorectal carcinoma Diseases 0.000 description 1
- 239000000356 contaminant Substances 0.000 description 1
- 108091008034 costimulatory receptors Proteins 0.000 description 1
- 208000035250 cutaneous malignant susceptibility to 1 melanoma Diseases 0.000 description 1
- 208000030381 cutaneous melanoma Diseases 0.000 description 1
- 230000003247 decreasing effect Effects 0.000 description 1
- 238000012350 deep sequencing Methods 0.000 description 1
- 238000011161 development Methods 0.000 description 1
- 206010012818 diffuse large B-cell lymphoma Diseases 0.000 description 1
- 238000006073 displacement reaction Methods 0.000 description 1
- 238000009826 distribution Methods 0.000 description 1
- 230000002222 downregulating effect Effects 0.000 description 1
- 230000003828 downregulation Effects 0.000 description 1
- 238000001493 electron microscopy Methods 0.000 description 1
- 239000000839 emulsion Substances 0.000 description 1
- 201000003914 endometrial carcinoma Diseases 0.000 description 1
- 201000000330 endometrial stromal sarcoma Diseases 0.000 description 1
- 208000029179 endometrioid stromal sarcoma Diseases 0.000 description 1
- 210000002889 endothelial cell Anatomy 0.000 description 1
- 239000003623 enhancer Substances 0.000 description 1
- 230000001973 epigenetic effect Effects 0.000 description 1
- 230000004049 epigenetic modification Effects 0.000 description 1
- 210000003743 erythrocyte Anatomy 0.000 description 1
- 208000028653 esophageal adenocarcinoma Diseases 0.000 description 1
- 201000004101 esophageal cancer Diseases 0.000 description 1
- 208000007276 esophageal squamous cell carcinoma Diseases 0.000 description 1
- 102000013165 exonuclease Human genes 0.000 description 1
- 108010091897 factor V Leiden Proteins 0.000 description 1
- 201000001386 familial hypercholesterolemia Diseases 0.000 description 1
- 230000001605 fetal effect Effects 0.000 description 1
- 239000000835 fiber Substances 0.000 description 1
- 201000008396 gallbladder adenocarcinoma Diseases 0.000 description 1
- 201000010175 gallbladder cancer Diseases 0.000 description 1
- 201000007487 gallbladder carcinoma Diseases 0.000 description 1
- 208000010749 gastric carcinoma Diseases 0.000 description 1
- 239000000499 gel Substances 0.000 description 1
- 230000007274 generation of a signal involved in cell-cell signaling Effects 0.000 description 1
- 208000016361 genetic disease Diseases 0.000 description 1
- 230000037442 genomic alteration Effects 0.000 description 1
- 210000003731 gingival crevicular fluid Anatomy 0.000 description 1
- 239000008187 granular material Substances 0.000 description 1
- 229940029575 guanosine Drugs 0.000 description 1
- 208000014951 hematologic disease Diseases 0.000 description 1
- 208000018706 hematopoietic system disease Diseases 0.000 description 1
- 208000006359 hepatoblastoma Diseases 0.000 description 1
- 231100000844 hepatocellular carcinoma Toxicity 0.000 description 1
- 208000009624 holoprosencephaly Diseases 0.000 description 1
- 210000003917 human chromosome Anatomy 0.000 description 1
- QAOWNCQODCNURD-UHFFFAOYSA-M hydrogensulfate Chemical compound OS([O-])(=O)=O QAOWNCQODCNURD-UHFFFAOYSA-M 0.000 description 1
- 230000028993 immune response Effects 0.000 description 1
- 230000001976 improved effect Effects 0.000 description 1
- 208000033065 inborn errors of immunity Diseases 0.000 description 1
- 230000028709 inflammatory response Effects 0.000 description 1
- 230000010354 integration Effects 0.000 description 1
- 230000003993 interaction Effects 0.000 description 1
- 238000007918 intramuscular administration Methods 0.000 description 1
- 238000007912 intraperitoneal administration Methods 0.000 description 1
- 238000007913 intrathecal administration Methods 0.000 description 1
- 238000007915 intraurethral administration Methods 0.000 description 1
- 238000001990 intravenous administration Methods 0.000 description 1
- 229960005386 ipilimumab Drugs 0.000 description 1
- 230000001788 irregular Effects 0.000 description 1
- 208000032839 leukemia Diseases 0.000 description 1
- 210000000265 leukocyte Anatomy 0.000 description 1
- 238000007834 ligase chain reaction Methods 0.000 description 1
- 238000011528 liquid biopsy Methods 0.000 description 1
- 201000007270 liver cancer Diseases 0.000 description 1
- 201000002250 liver carcinoma Diseases 0.000 description 1
- 208000014018 liver neoplasm Diseases 0.000 description 1
- 238000011068 loading method Methods 0.000 description 1
- 230000000527 lymphocytic effect Effects 0.000 description 1
- 238000007403 mPCR Methods 0.000 description 1
- 208000015486 malignant pancreatic neoplasm Diseases 0.000 description 1
- 238000007726 management method Methods 0.000 description 1
- 230000008774 maternal effect Effects 0.000 description 1
- 239000011159 matrix material Substances 0.000 description 1
- 108091070501 miRNA Proteins 0.000 description 1
- 238000002493 microarray Methods 0.000 description 1
- 239000008267 milk Substances 0.000 description 1
- 210000004080 milk Anatomy 0.000 description 1
- 235000013336 milk Nutrition 0.000 description 1
- 230000000116 mitigating effect Effects 0.000 description 1
- 239000000203 mixture Substances 0.000 description 1
- 238000012986 modification Methods 0.000 description 1
- 230000004048 modification Effects 0.000 description 1
- 201000006938 muscular dystrophy Diseases 0.000 description 1
- 230000017074 necrotic cell death Effects 0.000 description 1
- 201000008026 nephroblastoma Diseases 0.000 description 1
- 238000007857 nested PCR Methods 0.000 description 1
- 230000004770 neurodegeneration Effects 0.000 description 1
- 208000015122 neurodegenerative disease Diseases 0.000 description 1
- 201000004931 neurofibromatosis Diseases 0.000 description 1
- 108091027963 non-coding RNA Proteins 0.000 description 1
- 102000042567 non-coding RNA Human genes 0.000 description 1
- 201000011330 nonpapillary renal cell carcinoma Diseases 0.000 description 1
- 201000002575 ocular melanoma Diseases 0.000 description 1
- 239000002751 oligonucleotide probe Substances 0.000 description 1
- 238000011275 oncology therapy Methods 0.000 description 1
- 208000010655 oral cavity squamous cell carcinoma Diseases 0.000 description 1
- 210000000056 organ Anatomy 0.000 description 1
- 201000006958 oropharynx cancer Diseases 0.000 description 1
- 201000008968 osteosarcoma Diseases 0.000 description 1
- 201000002528 pancreatic cancer Diseases 0.000 description 1
- 208000008443 pancreatic carcinoma Diseases 0.000 description 1
- 201000008129 pancreatic ductal adenocarcinoma Diseases 0.000 description 1
- 239000013610 patient sample Substances 0.000 description 1
- 239000008194 pharmaceutical composition Substances 0.000 description 1
- 229920000642 polymer Polymers 0.000 description 1
- 238000011176 pooling Methods 0.000 description 1
- 238000001556 precipitation Methods 0.000 description 1
- 238000002360 preparation method Methods 0.000 description 1
- 208000028529 primary immunodeficiency disease Diseases 0.000 description 1
- 201000005825 prostate adenocarcinoma Diseases 0.000 description 1
- 210000004908 prostatic fluid Anatomy 0.000 description 1
- 238000000746 purification Methods 0.000 description 1
- 238000001959 radiotherapy Methods 0.000 description 1
- 239000011541 reaction mixture Substances 0.000 description 1
- 230000008707 rearrangement Effects 0.000 description 1
- 206010038038 rectal cancer Diseases 0.000 description 1
- 201000001275 rectum cancer Diseases 0.000 description 1
- 230000010076 replication Effects 0.000 description 1
- 238000012552 review Methods 0.000 description 1
- 108020004418 ribosomal RNA Proteins 0.000 description 1
- 150000003839 salts Chemical class 0.000 description 1
- 238000007480 sanger sequencing Methods 0.000 description 1
- 230000028327 secretion Effects 0.000 description 1
- 201000000849 skin cancer Diseases 0.000 description 1
- 201000003708 skin melanoma Diseases 0.000 description 1
- 239000010454 slate Substances 0.000 description 1
- 239000007790 solid phase Substances 0.000 description 1
- 208000002320 spinal muscular atrophy Diseases 0.000 description 1
- 239000007921 spray Substances 0.000 description 1
- 230000004936 stimulating effect Effects 0.000 description 1
- 201000011549 stomach cancer Diseases 0.000 description 1
- 201000000498 stomach carcinoma Diseases 0.000 description 1
- 238000007920 subcutaneous administration Methods 0.000 description 1
- 239000000829 suppository Substances 0.000 description 1
- 230000001629 suppression Effects 0.000 description 1
- 238000001356 surgical procedure Methods 0.000 description 1
- 210000004243 sweat Anatomy 0.000 description 1
- 210000001179 synovial fluid Anatomy 0.000 description 1
- 230000009897 systematic effect Effects 0.000 description 1
- 239000003826 tablet Substances 0.000 description 1
- 230000008685 targeting Effects 0.000 description 1
- 229940066453 tecentriq Drugs 0.000 description 1
- 108091035539 telomere Proteins 0.000 description 1
- 102000055501 telomere Human genes 0.000 description 1
- 210000003411 telomere Anatomy 0.000 description 1
- 239000010409 thin film Substances 0.000 description 1
- 201000005665 thrombophilia Diseases 0.000 description 1
- 229940104230 thymidine Drugs 0.000 description 1
- 230000018412 transposition, RNA-mediated Effects 0.000 description 1
- 210000004881 tumor cell Anatomy 0.000 description 1
- 201000005112 urinary bladder cancer Diseases 0.000 description 1
- 206010046766 uterine cancer Diseases 0.000 description 1
- 208000037965 uterine sarcoma Diseases 0.000 description 1
- 201000000866 velocardiofacial syndrome Diseases 0.000 description 1
- 230000003612 virological effect Effects 0.000 description 1
- 238000005406 washing Methods 0.000 description 1
- 238000007704 wet chemistry method Methods 0.000 description 1
- 229940055760 yervoy Drugs 0.000 description 1
Classifications
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
- G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
- G16H50/20—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/10—Sequence alignment; Homology search
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
Landscapes
- Engineering & Computer Science (AREA)
- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Physics & Mathematics (AREA)
- Medical Informatics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Health & Medical Sciences (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Bioinformatics & Computational Biology (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Evolutionary Biology (AREA)
- Theoretical Computer Science (AREA)
- Analytical Chemistry (AREA)
- Chemical & Material Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Public Health (AREA)
- Molecular Biology (AREA)
- Epidemiology (AREA)
- Genetics & Genomics (AREA)
- Databases & Information Systems (AREA)
- Data Mining & Analysis (AREA)
- Biomedical Technology (AREA)
- Artificial Intelligence (AREA)
- Bioethics (AREA)
- Computer Vision & Pattern Recognition (AREA)
- Evolutionary Computation (AREA)
- Software Systems (AREA)
- Pathology (AREA)
- Primary Health Care (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201862657200P | 2018-04-13 | 2018-04-13 | |
| US62/657,200 | 2018-04-13 | ||
| PCT/US2019/027337 WO2019200328A1 (en) | 2018-04-13 | 2019-04-12 | Methods for detecting and suppressing alignment errors caused by fusion events |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| AU2019252947A1 true AU2019252947A1 (en) | 2020-10-29 |
Family
ID=68163816
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| AU2019252947A Abandoned AU2019252947A1 (en) | 2018-04-13 | 2019-04-12 | Methods for detecting and suppressing alignment errors caused by fusion events |
Country Status (6)
| Country | Link |
|---|---|
| US (1) | US12322476B2 (https=) |
| EP (1) | EP3785268A4 (https=) |
| JP (1) | JP7546486B2 (https=) |
| CN (1) | CN112334983A (https=) |
| AU (1) | AU2019252947A1 (https=) |
| WO (1) | WO2019200328A1 (https=) |
Families Citing this family (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN112687341B (zh) * | 2021-03-12 | 2021-06-04 | 上海思路迪医学检验所有限公司 | 一种以断点为中心的染色体结构变异鉴定方法 |
| US20230207054A1 (en) * | 2021-12-29 | 2023-06-29 | Illumina, Inc. | Deep learning network for evolutionary conservation |
Family Cites Families (11)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US6582908B2 (en) | 1990-12-06 | 2003-06-24 | Affymetrix, Inc. | Oligonucleotides |
| WO2003046146A2 (en) | 2001-11-28 | 2003-06-05 | Applera Corporation | Compositions and methods of selective nucleic acid isolation |
| US8835358B2 (en) | 2009-12-15 | 2014-09-16 | Cellular Research, Inc. | Digital counting of individual molecules by stochastic attachment of diverse labels |
| US8945556B2 (en) * | 2010-11-19 | 2015-02-03 | The Regents Of The University Of Michigan | RAF gene fusions |
| CN104781421B (zh) | 2012-09-04 | 2020-06-05 | 夸登特健康公司 | 检测稀有突变和拷贝数变异的系统和方法 |
| CN114574581A (zh) * | 2013-03-15 | 2022-06-03 | 夸登特健康公司 | 检测稀有突变和拷贝数变异的系统和方法 |
| AU2014254394B2 (en) * | 2013-04-17 | 2020-06-18 | Life Technologies Corporation | Gene fusions and gene variants associated with cancer |
| ES2660989T3 (es) * | 2013-12-28 | 2018-03-27 | Guardant Health, Inc. | Métodos y sistemas para detectar variantes genéticas |
| CN107075730A (zh) | 2014-09-12 | 2017-08-18 | 利兰·斯坦福青年大学托管委员会 | 循环核酸的鉴定及用途 |
| WO2017062970A1 (en) | 2015-10-10 | 2017-04-13 | Guardant Health, Inc. | Methods and applications of gene fusion detection in cell-free dna analysis |
| EP3625713A1 (en) | 2017-05-19 | 2020-03-25 | Guardant Health, Inc. | Methods and systems for detecting insertions and deletions |
-
2019
- 2019-04-12 JP JP2020555454A patent/JP7546486B2/ja active Active
- 2019-04-12 AU AU2019252947A patent/AU2019252947A1/en not_active Abandoned
- 2019-04-12 EP EP19786130.5A patent/EP3785268A4/en active Pending
- 2019-04-12 US US16/383,349 patent/US12322476B2/en active Active
- 2019-04-12 WO PCT/US2019/027337 patent/WO2019200328A1/en not_active Ceased
- 2019-04-12 CN CN201980040108.4A patent/CN112334983A/zh active Pending
Also Published As
| Publication number | Publication date |
|---|---|
| US20200020416A1 (en) | 2020-01-16 |
| WO2019200328A1 (en) | 2019-10-17 |
| CN112334983A (zh) | 2021-02-05 |
| US12322476B2 (en) | 2025-06-03 |
| JP2021520810A (ja) | 2021-08-26 |
| EP3785268A1 (en) | 2021-03-03 |
| JP7546486B2 (ja) | 2024-09-06 |
| CA3096261A1 (en) | 2019-10-17 |
| EP3785268A4 (en) | 2022-01-05 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| US20240021271A1 (en) | Methods and systems for predicting an origin of a variant | |
| AU2019328344B2 (en) | Microsatellite instability detection in cell-free DNA | |
| US20190385700A1 (en) | METHODS AND SYSTEMS FOR DETERMINING The CELLULAR ORIGIN OF CELL-FREE NUCLEIC ACIDS | |
| JP7842700B2 (ja) | 相同組換え修復欠損の検出 | |
| KR102722821B1 (ko) | 체세포 및 생식세포계열 변이체를 구별하기 위한 방법 및 시스템 | |
| US20220344004A1 (en) | Detecting the presence of a tumor based on off-target polynucleotide sequencing data | |
| EP4302301A1 (en) | Methods and related aspects for analyzing molecular response | |
| US20220028494A1 (en) | Methods and systems for determining the cellular origin of cell-free dna | |
| US20260120797A1 (en) | Cell-free dna blood-based test for cancer screening | |
| JP2024056984A (ja) | エピジェネティック区画アッセイを較正するための方法、組成物およびシステム | |
| JP7783176B2 (ja) | メチル化ポリヌクレオチドの結合を改善するための方法、組成物およびシステム | |
| US12322476B2 (en) | Methods for detecting and suppressing alignment errors caused by fusion events | |
| JP2025028203A (ja) | 脱アミノ化に誘導される配列エラーの補正 | |
| US20260128120A1 (en) | Methods for detecting and suppressing alignment errors caused by fusion events | |
| CA3096261C (en) | Methods for detecting and suppressing alignment errors caused by fusion events | |
| US20250034627A1 (en) | Methods for amplification-free enrichment |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| MK1 | Application lapsed section 142(2)(a) - no request for examination in relevant period |