CA3058845A1 - Use of off-target sequences for dna analysis - Google Patents
Use of off-target sequences for dna analysis Download PDFInfo
- Publication number
- CA3058845A1 CA3058845A1 CA3058845A CA3058845A CA3058845A1 CA 3058845 A1 CA3058845 A1 CA 3058845A1 CA 3058845 A CA3058845 A CA 3058845A CA 3058845 A CA3058845 A CA 3058845A CA 3058845 A1 CA3058845 A1 CA 3058845A1
- Authority
- CA
- Canada
- Prior art keywords
- target
- reads
- fetal
- dna
- sample
- 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.)
- Pending
Links
- 238000004458 analytical method Methods 0.000 title claims description 18
- 238000000034 method Methods 0.000 claims abstract description 71
- 230000001605 fetal effect Effects 0.000 claims abstract description 47
- 208000036878 aneuploidy Diseases 0.000 claims abstract description 46
- 150000007523 nucleic acids Chemical class 0.000 claims abstract description 46
- 231100001075 aneuploidy Toxicity 0.000 claims abstract description 44
- 238000012163 sequencing technique Methods 0.000 claims abstract description 41
- 230000002759 chromosomal effect Effects 0.000 claims abstract description 37
- 108020004707 nucleic acids Proteins 0.000 claims abstract description 37
- 102000039446 nucleic acids Human genes 0.000 claims abstract description 37
- 239000012472 biological sample Substances 0.000 claims abstract description 21
- 230000008774 maternal effect Effects 0.000 claims abstract description 12
- 239000000523 sample Substances 0.000 claims description 82
- 238000001514 detection method Methods 0.000 claims description 12
- 230000000306 recurrent effect Effects 0.000 claims description 7
- 238000013507 mapping Methods 0.000 claims description 4
- 238000009396 hybridization Methods 0.000 claims description 3
- 239000003298 DNA probe Substances 0.000 claims description 2
- 239000003391 RNA probe Substances 0.000 claims description 2
- 238000012350 deep sequencing Methods 0.000 claims description 2
- 210000000349 chromosome Anatomy 0.000 description 40
- 208000011580 syndromic disease Diseases 0.000 description 31
- 238000012217 deletion Methods 0.000 description 25
- 230000037430 deletion Effects 0.000 description 25
- 108020004414 DNA Proteins 0.000 description 24
- 208000030454 monosomy Diseases 0.000 description 22
- 208000037280 Trisomy Diseases 0.000 description 15
- 238000012360 testing method Methods 0.000 description 14
- 230000002068 genetic effect Effects 0.000 description 11
- 108091028043 Nucleic acid sequence Proteins 0.000 description 10
- 206010028980 Neoplasm Diseases 0.000 description 8
- 238000007481 next generation sequencing Methods 0.000 description 7
- 108090000623 proteins and genes Proteins 0.000 description 7
- 208000031404 Chromosome Aberrations Diseases 0.000 description 6
- 238000005516 engineering process Methods 0.000 description 6
- 239000012634 fragment Substances 0.000 description 6
- 230000004075 alteration Effects 0.000 description 5
- 201000011510 cancer Diseases 0.000 description 5
- 239000000203 mixture Substances 0.000 description 5
- 238000012216 screening Methods 0.000 description 5
- 208000000398 DiGeorge Syndrome Diseases 0.000 description 4
- 238000012300 Sequence Analysis Methods 0.000 description 4
- 238000012937 correction Methods 0.000 description 4
- 210000003754 fetus Anatomy 0.000 description 4
- 230000008569 process Effects 0.000 description 4
- 102000004169 proteins and genes Human genes 0.000 description 4
- 208000010543 22q11.2 deletion syndrome Diseases 0.000 description 3
- 201000010374 Down Syndrome Diseases 0.000 description 3
- 208000034079 Monosomy 9p Diseases 0.000 description 3
- 201000003793 Myelodysplastic syndrome Diseases 0.000 description 3
- 206010044688 Trisomy 21 Diseases 0.000 description 3
- 210000004369 blood Anatomy 0.000 description 3
- 239000008280 blood Substances 0.000 description 3
- 201000001329 chromosome 9p deletion syndrome Diseases 0.000 description 3
- 231100000005 chromosome aberration Toxicity 0.000 description 3
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 3
- 238000010606 normalization Methods 0.000 description 3
- 238000002360 preparation method Methods 0.000 description 3
- 239000013074 reference sample Substances 0.000 description 3
- 210000002966 serum Anatomy 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
- 108700028369 Alleles Proteins 0.000 description 2
- 208000009575 Angelman syndrome Diseases 0.000 description 2
- 201000006360 Edwards syndrome Diseases 0.000 description 2
- 241001465754 Metazoa Species 0.000 description 2
- 206010044686 Trisomy 13 Diseases 0.000 description 2
- 208000006284 Trisomy 13 Syndrome Diseases 0.000 description 2
- 208000007159 Trisomy 18 Syndrome Diseases 0.000 description 2
- 206010071547 Trisomy 9 Diseases 0.000 description 2
- 206010049644 Williams syndrome Diseases 0.000 description 2
- 208000006254 Wolf-Hirschhorn Syndrome Diseases 0.000 description 2
- 230000005856 abnormality Effects 0.000 description 2
- 230000003322 aneuploid effect Effects 0.000 description 2
- 238000001574 biopsy Methods 0.000 description 2
- 210000004027 cell Anatomy 0.000 description 2
- 230000008859 change Effects 0.000 description 2
- 238000004590 computer program Methods 0.000 description 2
- 238000011161 development Methods 0.000 description 2
- 238000003745 diagnosis Methods 0.000 description 2
- 201000010099 disease Diseases 0.000 description 2
- 239000012530 fluid Substances 0.000 description 2
- 230000006870 function Effects 0.000 description 2
- 238000003780 insertion Methods 0.000 description 2
- 230000037431 insertion Effects 0.000 description 2
- 239000002609 medium Substances 0.000 description 2
- 210000002381 plasma Anatomy 0.000 description 2
- 238000012545 processing Methods 0.000 description 2
- 230000009467 reduction Effects 0.000 description 2
- 210000003296 saliva Anatomy 0.000 description 2
- 230000035945 sensitivity Effects 0.000 description 2
- 206010053884 trisomy 18 Diseases 0.000 description 2
- 208000035075 17p11.2 microduplication syndrome Diseases 0.000 description 1
- 208000026120 1p36 deletion syndrome Diseases 0.000 description 1
- 208000020570 3p deletion syndrome Diseases 0.000 description 1
- 208000026817 47,XYY syndrome Diseases 0.000 description 1
- 208000031261 Acute myeloid leukaemia Diseases 0.000 description 1
- 208000034431 Adrenal hypoplasia congenita Diseases 0.000 description 1
- 208000005875 Alternating hemiplegia of childhood Diseases 0.000 description 1
- 108091093088 Amplicon Proteins 0.000 description 1
- 108090001008 Avidin Proteins 0.000 description 1
- 241000894006 Bacteria Species 0.000 description 1
- 201000000046 Beckwith-Wiedemann syndrome Diseases 0.000 description 1
- 208000010693 Charcot-Marie-Tooth Disease Diseases 0.000 description 1
- 206010008805 Chromosomal abnormalities Diseases 0.000 description 1
- 208000031639 Chromosome Deletion Diseases 0.000 description 1
- 208000003449 Classical Lissencephalies and Subcortical Band Heterotopias Diseases 0.000 description 1
- 102100025621 Cytochrome b-245 heavy chain Human genes 0.000 description 1
- 206010067477 Cytogenetic abnormality Diseases 0.000 description 1
- -1 DNA Chemical class 0.000 description 1
- 208000010255 Familial Hypoadrenocorticism Diseases 0.000 description 1
- 241000233866 Fungi Species 0.000 description 1
- 206010053759 Growth retardation Diseases 0.000 description 1
- 208000004706 Jacobsen Distal 11q Deletion Syndrome Diseases 0.000 description 1
- 208000029279 Jacobsen Syndrome Diseases 0.000 description 1
- 208000017924 Klinefelter Syndrome Diseases 0.000 description 1
- 206010050638 Langer-Giedion syndrome Diseases 0.000 description 1
- 208000035752 Live birth Diseases 0.000 description 1
- 241000124008 Mammalia Species 0.000 description 1
- 201000004246 Miller-Dieker lissencephaly syndrome Diseases 0.000 description 1
- 208000035022 Miller-Dieker syndrome Diseases 0.000 description 1
- 208000010610 Mosaic trisomy 8 Diseases 0.000 description 1
- 208000016039 Mosaic trisomy 9 Diseases 0.000 description 1
- 101001024425 Mus musculus Ig gamma-2A chain C region secreted form Proteins 0.000 description 1
- 208000033776 Myeloid Acute Leukemia Diseases 0.000 description 1
- 208000003019 Neurofibromatosis 1 Diseases 0.000 description 1
- 208000024834 Neurofibromatosis type 1 Diseases 0.000 description 1
- 201000009928 Patau syndrome Diseases 0.000 description 1
- 208000004780 Potocki-Lupski syndrome Diseases 0.000 description 1
- 208000006720 Potocki-Shaffer syndrome Diseases 0.000 description 1
- 201000010769 Prader-Willi syndrome Diseases 0.000 description 1
- 206010036790 Productive cough Diseases 0.000 description 1
- 240000004808 Saccharomyces cerevisiae Species 0.000 description 1
- 108010090804 Streptavidin Proteins 0.000 description 1
- 208000035378 Trichorhinophalangeal syndrome type 2 Diseases 0.000 description 1
- 206010063092 Trisomy 12 Diseases 0.000 description 1
- 206010071762 Trisomy 14 Diseases 0.000 description 1
- 206010053925 Trisomy 17 Diseases 0.000 description 1
- 208000015427 Trisomy 20p Diseases 0.000 description 1
- 208000021843 Trisomy 9p Diseases 0.000 description 1
- 208000026928 Turner syndrome Diseases 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
- 201000010869 X-linked adrenal hypoplasia congenita Diseases 0.000 description 1
- 208000001001 X-linked ichthyosis Diseases 0.000 description 1
- 238000002669 amniocentesis Methods 0.000 description 1
- 208000008303 aniridia Diseases 0.000 description 1
- 238000013459 approach Methods 0.000 description 1
- 208000022379 autosomal dominant Opitz G/BBB syndrome Diseases 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
- 210000004952 blastocoel Anatomy 0.000 description 1
- 210000001175 cerebrospinal fluid Anatomy 0.000 description 1
- 239000003153 chemical reaction reagent Substances 0.000 description 1
- 210000004252 chorionic villi Anatomy 0.000 description 1
- 201000004723 chromosome 1p36 deletion syndrome Diseases 0.000 description 1
- 208000016532 chronic granulomatous disease Diseases 0.000 description 1
- 230000001186 cumulative effect Effects 0.000 description 1
- 238000002405 diagnostic procedure Methods 0.000 description 1
- 238000005315 distribution function Methods 0.000 description 1
- 239000003814 drug Substances 0.000 description 1
- 238000011156 evaluation Methods 0.000 description 1
- 238000002474 experimental method Methods 0.000 description 1
- 238000000605 extraction Methods 0.000 description 1
- 230000001815 facial effect Effects 0.000 description 1
- 231100000562 fetal loss Toxicity 0.000 description 1
- 238000009472 formulation Methods 0.000 description 1
- 230000004077 genetic alteration Effects 0.000 description 1
- 238000012252 genetic analysis Methods 0.000 description 1
- 210000004602 germ cell Anatomy 0.000 description 1
- PCHJSUWPFVWCPO-UHFFFAOYSA-N gold Chemical compound [Au] PCHJSUWPFVWCPO-UHFFFAOYSA-N 0.000 description 1
- 239000001963 growth medium Substances 0.000 description 1
- 231100000001 growth retardation Toxicity 0.000 description 1
- 230000036541 health Effects 0.000 description 1
- 238000000338 in vitro Methods 0.000 description 1
- 238000002955 isolation Methods 0.000 description 1
- 239000007788 liquid Substances 0.000 description 1
- 210000002751 lymph Anatomy 0.000 description 1
- 210000001161 mammalian embryo Anatomy 0.000 description 1
- 239000000463 material Substances 0.000 description 1
- 230000003340 mental effect Effects 0.000 description 1
- 239000003607 modifier Substances 0.000 description 1
- 239000003068 molecular probe Substances 0.000 description 1
- 230000035772 mutation Effects 0.000 description 1
- 201000008026 nephroblastoma Diseases 0.000 description 1
- 208000002761 neurofibromatosis 2 Diseases 0.000 description 1
- 239000002773 nucleotide Substances 0.000 description 1
- 125000003729 nucleotide group Chemical group 0.000 description 1
- 201000003738 orofaciodigital syndrome VIII Diseases 0.000 description 1
- 230000003169 placental effect Effects 0.000 description 1
- 102000054765 polymorphisms of proteins Human genes 0.000 description 1
- 238000003793 prenatal diagnosis Methods 0.000 description 1
- 230000002265 prevention Effects 0.000 description 1
- 230000002062 proliferating effect Effects 0.000 description 1
- 239000011541 reaction mixture Substances 0.000 description 1
- 208000026079 recessive X-linked ichthyosis Diseases 0.000 description 1
- 238000011160 research Methods 0.000 description 1
- 238000005070 sampling Methods 0.000 description 1
- 210000000582 semen Anatomy 0.000 description 1
- 241000894007 species Species 0.000 description 1
- 210000003802 sputum Anatomy 0.000 description 1
- 208000024794 sputum Diseases 0.000 description 1
- 210000004243 sweat Anatomy 0.000 description 1
- 230000008685 targeting Effects 0.000 description 1
- 210000001138 tear Anatomy 0.000 description 1
- 230000002123 temporal effect Effects 0.000 description 1
- 210000001519 tissue Anatomy 0.000 description 1
- 238000012549 training Methods 0.000 description 1
- 201000006532 trichorhinophalangeal syndrome type II Diseases 0.000 description 1
- 206010044689 trisomy 22 Diseases 0.000 description 1
- 208000030927 trisomy 4p Diseases 0.000 description 1
- 208000026485 trisomy X Diseases 0.000 description 1
- 210000002700 urine Anatomy 0.000 description 1
- 238000010200 validation analysis Methods 0.000 description 1
- 201000000866 velocardiofacial syndrome Diseases 0.000 description 1
Classifications
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6869—Methods for sequencing
-
- 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
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
-
- 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
- G16B20/10—Ploidy or copy number detection
-
- 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
- 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
- G16B40/20—Supervised data analysis
-
- 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
- G16B5/00—ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic networks
-
- 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
- G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
-
- 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
- G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
- G16B50/10—Ontologies; Annotations
-
- 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
- G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
- G16B50/30—Data warehousing; Computing architectures
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Organic Chemistry (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Analytical Chemistry (AREA)
- Genetics & Genomics (AREA)
- Physics & Mathematics (AREA)
- General Health & Medical Sciences (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Molecular Biology (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- Pathology (AREA)
- Evolutionary Biology (AREA)
- Theoretical Computer Science (AREA)
- Bioinformatics & Computational Biology (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Medical Informatics (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| EP17166836 | 2017-04-18 | ||
| EP17166836.1 | 2017-04-18 | ||
| PCT/EP2018/059889 WO2018192967A1 (en) | 2017-04-18 | 2018-04-18 | Use of off-target sequences for dna analysis |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CA3058845A1 true CA3058845A1 (en) | 2018-10-25 |
Family
ID=58549069
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA3058845A Pending CA3058845A1 (en) | 2017-04-18 | 2018-04-18 | Use of off-target sequences for dna analysis |
Country Status (6)
| Country | Link |
|---|---|
| US (1) | US20200048715A1 (enExample) |
| EP (2) | EP3988672B1 (enExample) |
| JP (1) | JP7170711B2 (enExample) |
| CN (1) | CN110475874A (enExample) |
| CA (1) | CA3058845A1 (enExample) |
| WO (1) | WO2018192967A1 (enExample) |
Families Citing this family (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| EP4305200A1 (en) * | 2021-03-09 | 2024-01-17 | Guardant Health, Inc. | Detecting the presence of a tumor based on off-target polynucleotide sequencing data |
| CN114334007B (zh) * | 2022-01-20 | 2024-10-18 | 腾讯科技（深圳）有限公司 | 基因脱靶预测模型训练方法、预测方法、装置及电子设备 |
| CN119207553B (zh) * | 2024-10-08 | 2025-10-10 | 上海唯可生物科技有限公司 | 一种基于靶向富集测序评估基因编辑脱靶风险的方法 |
Family Cites Families (7)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| EP4074838A1 (en) * | 2010-01-19 | 2022-10-19 | Verinata Health, Inc. | Novel protocol for preparing sequencing libraries |
| US11322224B2 (en) * | 2010-05-18 | 2022-05-03 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| ES2651612T3 (es) * | 2011-10-18 | 2018-01-29 | Multiplicom Nv | Diagnóstico de aneuploidía cromosómica fetal |
| AU2013245272B2 (en) * | 2012-04-06 | 2018-04-05 | The Chinese University Of Hong Kong | Noninvasive prenatal diagnosis of fetal trisomy by allelic ratio analysis using targeted massively parallel sequencing |
| EP3409791B1 (en) * | 2013-03-15 | 2021-06-30 | Verinata Health, Inc. | Generating cell-free dna libraries directly from blood |
| EP4567682A3 (en) | 2013-08-30 | 2025-09-03 | Personalis, Inc. | Methods for genomic analysis |
| KR101721480B1 (ko) * | 2016-06-02 | 2017-03-30 | 주식회사 랩 지노믹스 | 염색체 이상 검사 방법 및 시스템 |
-
2018
- 2018-04-18 EP EP21208315.8A patent/EP3988672B1/en active Active
- 2018-04-18 US US16/606,076 patent/US20200048715A1/en not_active Abandoned
- 2018-04-18 CA CA3058845A patent/CA3058845A1/en active Pending
- 2018-04-18 JP JP2020507747A patent/JP7170711B2/ja active Active
- 2018-04-18 EP EP18717082.4A patent/EP3612644B1/en active Active
- 2018-04-18 WO PCT/EP2018/059889 patent/WO2018192967A1/en not_active Ceased
- 2018-04-18 CN CN201880018765.4A patent/CN110475874A/zh active Pending
Also Published As
| Publication number | Publication date |
|---|---|
| JP7170711B2 (ja) | 2022-11-14 |
| EP3988672A1 (en) | 2022-04-27 |
| CN110475874A (zh) | 2019-11-19 |
| JP2020517304A (ja) | 2020-06-18 |
| WO2018192967A1 (en) | 2018-10-25 |
| EP3612644A1 (en) | 2020-02-26 |
| US20200048715A1 (en) | 2020-02-13 |
| EP3988672B1 (en) | 2023-08-23 |
| EP3612644B1 (en) | 2021-12-15 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| US20250046394A1 (en) | Using cell-free dna fragment size to detect tumor-associated variant | |
| JP6830094B2 (ja) | 染色体異常を検出するための核酸及び方法 | |
| KR102339760B1 (ko) | 대규모 병렬 게놈 서열분석을 이용한 태아 염색체 이수성의 진단 방법 | |
| EP2852680B1 (en) | Methods and processes for non-invasive assessment of genetic variations | |
| JP2023504529A (ja) | がん予測パイプラインにおけるｒｎａ発現コールを自動化するためのシステムおよび方法 | |
| EP3666902B1 (en) | Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing | |
| EA035148B1 (ru) | Применение размера фрагмента бесклеточной днк для определения вариаций числа копий | |
| WO2017059084A1 (en) | Immunorepertoire normality assessment method and its use | |
| EP3662479A1 (en) | A method for non-invasive prenatal detection of fetal sex chromosomal abnormalities and fetal sex determination for singleton and twin pregnancies | |
| US20230005568A1 (en) | Method of correcting amplification bias in amplicon sequencing | |
| CN111051529A (zh) | 用于与生物靶相关的表征的同源基因组区域 | |
| EP3612644B1 (en) | Use of off-target sequences for dna analysis | |
| KR20250019610A (ko) | 치료 모니터링을 위한 메틸화된 세포 유리 dna의 분자 계수 | |
| WO2024044668A2 (en) | Next-generation sequencing pipeline for detection of ultrashort single-stranded cell-free dna | |
| EP3118323A1 (en) | System and methodology for the analysis of genomic data obtained from a subject | |
| WO2024155681A1 (en) | Methods and systems for detecting and assessing liver conditions | |
| HK40069221B (en) | Methods and processes for non-invasive assessment of genetic variations | |
| HK40032387B (en) | Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing | |
| HK40055868B (zh) | 使用无细胞dna片段尺寸以确定拷贝数变异 | |
| HK40017917A (en) | Homologous genomic regions for characterization associated with biological targets | |
| HK40017915A (en) | Target-associated molecules for characterization associated with biological targets | |
| HK1227442B (en) | Methods and processes for non-invasive assessment of genetic variations | |
| HK1227442A1 (en) | Methods and processes for non-invasive assessment of genetic variations | |
| HK1205203B (en) | Methods and processes for non-invasive assessment of genetic variations |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| EEER | Examination request |
Effective date: 20230327 |
|
| EEER | Examination request |
Effective date: 20230327 |
|
| EEER | Examination request |
Effective date: 20230327 |
|
| EEER | Examination request |
Effective date: 20230327 |