JP2013121359A - 胎児遺伝形質の非侵襲的検出 - Google Patents
胎児遺伝形質の非侵襲的検出 Download PDFInfo
- Publication number
- JP2013121359A JP2013121359A JP2013019380A JP2013019380A JP2013121359A JP 2013121359 A JP2013121359 A JP 2013121359A JP 2013019380 A JP2013019380 A JP 2013019380A JP 2013019380 A JP2013019380 A JP 2013019380A JP 2013121359 A JP2013121359 A JP 2013121359A
- Authority
- JP
- Japan
- Prior art keywords
- dna
- fraction
- fetal
- sample
- base pairs
- 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.)
- Granted
Links
- 230000001605 fetal effect Effects 0.000 title claims abstract description 46
- 230000002068 genetic effect Effects 0.000 title abstract description 17
- 238000001514 detection method Methods 0.000 title abstract description 15
- 238000000034 method Methods 0.000 claims abstract description 25
- 210000002966 serum Anatomy 0.000 claims abstract description 9
- 108020004414 DNA Proteins 0.000 claims description 79
- 238000001962 electrophoresis Methods 0.000 claims description 7
- 238000004587 chromatography analysis Methods 0.000 claims description 5
- 238000005251 capillar electrophoresis Methods 0.000 claims description 3
- 238000000432 density-gradient centrifugation Methods 0.000 claims description 2
- 238000004128 high performance liquid chromatography Methods 0.000 claims description 2
- 102000053602 DNA Human genes 0.000 claims 18
- 239000000523 sample Substances 0.000 abstract description 22
- 210000002381 plasma Anatomy 0.000 abstract description 16
- 238000003752 polymerase chain reaction Methods 0.000 abstract description 12
- 238000000926 separation method Methods 0.000 abstract description 10
- 238000006243 chemical reaction Methods 0.000 abstract description 5
- 238000005516 engineering process Methods 0.000 abstract description 4
- 238000009396 hybridization Methods 0.000 abstract description 2
- 238000003499 nucleic acid array Methods 0.000 abstract description 2
- 239000003446 ligand Substances 0.000 abstract 1
- 230000008774 maternal effect Effects 0.000 description 19
- 108700028369 Alleles Proteins 0.000 description 7
- 208000031404 Chromosome Aberrations Diseases 0.000 description 7
- 206010008805 Chromosomal abnormalities Diseases 0.000 description 6
- 210000004369 blood Anatomy 0.000 description 6
- 239000008280 blood Substances 0.000 description 6
- 238000005119 centrifugation Methods 0.000 description 6
- 239000012634 fragment Substances 0.000 description 6
- 230000035935 pregnancy Effects 0.000 description 5
- 239000000243 solution Substances 0.000 description 5
- 201000003883 Cystic fibrosis Diseases 0.000 description 4
- 208000026350 Inborn Genetic disease Diseases 0.000 description 4
- 108091092878 Microsatellite Proteins 0.000 description 4
- 210000002593 Y chromosome Anatomy 0.000 description 4
- 230000002159 abnormal effect Effects 0.000 description 4
- 230000003321 amplification Effects 0.000 description 4
- 208000036878 aneuploidy Diseases 0.000 description 4
- 231100001075 aneuploidy Toxicity 0.000 description 4
- 210000004027 cell Anatomy 0.000 description 4
- 210000003754 fetus Anatomy 0.000 description 4
- 239000000499 gel Substances 0.000 description 4
- 208000016361 genetic disease Diseases 0.000 description 4
- 239000000463 material Substances 0.000 description 4
- 238000003199 nucleic acid amplification method Methods 0.000 description 4
- 201000010374 Down Syndrome Diseases 0.000 description 3
- LFQSCWFLJHTTHZ-UHFFFAOYSA-N Ethanol Chemical compound CCO LFQSCWFLJHTTHZ-UHFFFAOYSA-N 0.000 description 3
- 210000001766 X chromosome Anatomy 0.000 description 3
- 239000011543 agarose gel Substances 0.000 description 3
- 210000000349 chromosome Anatomy 0.000 description 3
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 3
- 230000005861 gene abnormality Effects 0.000 description 3
- 230000008775 paternal effect Effects 0.000 description 3
- 239000008188 pellet Substances 0.000 description 3
- 238000007399 DNA isolation Methods 0.000 description 2
- KCXVZYZYPLLWCC-UHFFFAOYSA-N EDTA Chemical compound OC(=O)CN(CC(O)=O)CCN(CC(O)=O)CC(O)=O KCXVZYZYPLLWCC-UHFFFAOYSA-N 0.000 description 2
- 101150112014 Gapdh gene Proteins 0.000 description 2
- 208000031220 Hemophilia Diseases 0.000 description 2
- 208000009292 Hemophilia A Diseases 0.000 description 2
- 101150108975 Rhd gene Proteins 0.000 description 2
- 230000005856 abnormality Effects 0.000 description 2
- 238000000246 agarose gel electrophoresis Methods 0.000 description 2
- 238000004458 analytical method Methods 0.000 description 2
- 201000010099 disease Diseases 0.000 description 2
- 238000002474 experimental method Methods 0.000 description 2
- 238000000605 extraction Methods 0.000 description 2
- 230000002949 hemolytic effect Effects 0.000 description 2
- 239000011159 matrix material Substances 0.000 description 2
- 229920000642 polymer Polymers 0.000 description 2
- 238000003753 real-time PCR Methods 0.000 description 2
- 208000011580 syndromic disease Diseases 0.000 description 2
- QKNYBSVHEMOAJP-UHFFFAOYSA-N 2-amino-2-(hydroxymethyl)propane-1,3-diol;hydron;chloride Chemical compound Cl.OCC(N)(CO)CO QKNYBSVHEMOAJP-UHFFFAOYSA-N 0.000 description 1
- 229920000936 Agarose Polymers 0.000 description 1
- 238000000018 DNA microarray Methods 0.000 description 1
- 229920002527 Glycogen Polymers 0.000 description 1
- 238000011529 RT qPCR Methods 0.000 description 1
- 208000019291 X-linked disease Diseases 0.000 description 1
- 230000004913 activation Effects 0.000 description 1
- 238000003491 array Methods 0.000 description 1
- 239000011230 binding agent Substances 0.000 description 1
- 238000004364 calculation method Methods 0.000 description 1
- 238000010790 dilution Methods 0.000 description 1
- 239000012895 dilution Substances 0.000 description 1
- 208000035475 disorder Diseases 0.000 description 1
- 239000012153 distilled water Substances 0.000 description 1
- 230000000694 effects Effects 0.000 description 1
- 239000012149 elution buffer Substances 0.000 description 1
- 238000001914 filtration Methods 0.000 description 1
- 238000005194 fractionation Methods 0.000 description 1
- 238000001502 gel electrophoresis Methods 0.000 description 1
- 229940096919 glycogen Drugs 0.000 description 1
- PCHJSUWPFVWCPO-UHFFFAOYSA-N gold Chemical compound [Au] PCHJSUWPFVWCPO-UHFFFAOYSA-N 0.000 description 1
- 239000010931 gold Substances 0.000 description 1
- 229910052737 gold Inorganic materials 0.000 description 1
- 238000011534 incubation Methods 0.000 description 1
- 238000007834 ligase chain reaction Methods 0.000 description 1
- 238000007403 mPCR Methods 0.000 description 1
- 239000003550 marker Substances 0.000 description 1
- 238000011140 membrane chromatography Methods 0.000 description 1
- 238000004226 microchip electrophoresis Methods 0.000 description 1
- 238000012986 modification Methods 0.000 description 1
- 230000004048 modification Effects 0.000 description 1
- 238000007857 nested PCR Methods 0.000 description 1
- 239000002773 nucleotide Substances 0.000 description 1
- 210000005259 peripheral blood Anatomy 0.000 description 1
- 239000011886 peripheral blood Substances 0.000 description 1
- 229920002401 polyacrylamide Polymers 0.000 description 1
- 102000054765 polymorphisms of proteins Human genes 0.000 description 1
- 238000001556 precipitation Methods 0.000 description 1
- 108090000623 proteins and genes Proteins 0.000 description 1
- 102000004169 proteins and genes Human genes 0.000 description 1
- 238000000746 purification Methods 0.000 description 1
- 238000011002 quantification Methods 0.000 description 1
- 239000011541 reaction mixture Substances 0.000 description 1
- 239000013074 reference sample Substances 0.000 description 1
- 238000004007 reversed phase HPLC Methods 0.000 description 1
- 238000004513 sizing Methods 0.000 description 1
- 238000001179 sorption measurement Methods 0.000 description 1
- 239000006228 supernatant Substances 0.000 description 1
- 238000012360 testing method Methods 0.000 description 1
- XLYOFNOQVPJJNP-UHFFFAOYSA-N water Chemical compound O XLYOFNOQVPJJNP-UHFFFAOYSA-N 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
- C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
-
- 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
Abstract
【解決手段】胎児遺伝形質の非侵襲的検出を実施する方法であって、前記方法が、妊婦の血漿または血清サンプルをサイズ分離に付し、その中に存在する細胞外DNAが実質的に500またはそれ未満の塩基対を含むDNAから成る前記サンプルの分画を入手し、検出されるべき胎児遺伝形質を前記サンプル分画で決定することを含む前記非侵襲的検出を実施する方法。検出は、PCR(ポリメラーゼ連鎖反応)技術、リガンド連鎖反応もしくはプローブハイブリダイゼーション技術、または核酸アレーの手段によって実施することができる。
【選択図】なし
Description
−妊婦の血漿または血清サンプル(好ましくは実質的に細胞を含まない)の分画であって、前記サンプルがサイズ分離に付された結果として、その中に存在する細胞外DNAが実質的に500またはそれ未満の塩基対を含むDNAから成る前記血漿または血清サンプル分画;
−胎児遺伝形質の非侵襲的検出を目的とする前記サンプル分画の使用;および
−胎児遺伝形質の非侵襲的検出を実施する方法であって、前記方法が、妊婦の血漿または血清サンプルをサイズ分離に付し、その中に存在する細胞外DNAが実質的に500またはそれ未満の塩基対を含むDNAから成る前記サンプルの分画を入手し、検出されるべき胎児遺伝形質を前記サンプル分画で決定することを含む前記非侵襲的検出を実施する方法。
−クロマトグラフィーまたは電気泳動、例えばアガロースもしくはポリアクリルアミドでのクロマトグラフィー、イオンペア逆相高速クロマトグラフィー(IP RP HPLC)、(K.H. Hecker, S.M. Green, K. Kobayashi、J. Biochem. Biophys. Methods 2000(Nov. 20)、46(1-2):83〜93参照)、セルフコーティング低粘性ポリマーマトリックスでの毛細管電気泳動(M. Du, J.H. Flanagan Jr, B, Lin, Y. Ma、Electrophoresis 2003(Sep)、24(18):3147〜53参照)、超小型化電気泳動装置での選択的抽出(R. Lin, D.T. Burke, MA. Burn, J. Chromatogr. A.、2003(Aug 29)、1020(2):255〜68参照)、粘性低下ポリマーマトリックスによるマイクロチップ電気泳動(F. Xu, M. Jabasini, S. Liu, Y. Baba、Analyst.、2003(Jun)、128(6):589〜92参照)、吸着膜クロマトグラフィー(MA. Teeters, S.E. Conrardy, B.L. Thomas, T.W. Root, EN. Lightfoot, J. Chromatogr. A.、2003(Mar 7)、989(1):165〜73参照)など;
−密度勾配遠心分離(L. Raptis, HA. Menard, J. Clin、Invest.、1980(Dec)、66(6):1391〜9参照);および
−ナノテクノロジーを用いる方法、例えば超小型エントロピートラップアレー(J. Han, HG. Craighead、Analytical Chemistry、74巻、No.2、2002(Jan 15)参照)など。
−染色体異常(例えば異数性またはダウン症候群)、または遺伝性メンデル型遺伝疾患およびそれぞれ前記に附随する遺伝子マーカー(例えば単一遺伝子異常、例えば嚢胞性線維症または異常ヘモグロビン症);および
−父系が決定されたとき決定的となる胎児遺伝形質。
例1:アガロースゲル電気泳動によるサイズ分画後の母親の血漿におけるリアルタイム定量的ポリメラーゼ連鎖反応(PCR)による男子胎児DNAの検出
材料と方法
対象者およびサンプルの処理:
男子胎児をもつ第三期トリメスターの妊婦7人を本実験のために募集した。16から18mLの血液サンプルをEDTAチューブに採集した。1600gで10分の遠心および1600gで10分の第二回目の遠心後に6から9mLの血漿を得た。
キアゲンマキシ(QIAgen Maxi)キットを用い製造元のプロトコルにしたがって、5から7mLの血漿からDNAを抽出した。DNAは1.5mLの容積に溶出させた。
1.血漿DNAに以下を添加した:1/10容積のNaAc(3M、pH5.2)、2容積の無水エタノール、MgCl2(最終濃度0.01M)およびグリコゲン(最終濃度50μg/mL)。前記溶液をボルテックスミキサーで完全に溶解させた。
2.前記溶液を-70℃で一晩保存した。
3.前記DNAを20000gで30分、4℃で遠心分離によって回収した。
4.上清を注意深く取り除き、ペレットを500μLの70%エタノールで洗浄した。
5.前記ペレットを風乾し、35μLの蒸留水に溶解した。
1.DNA電気泳動のために1%のアガロースゲル(Invitrogen, カタログ番号:15510-027)を調製した。
2.前記ゲルに28μLのDNA溶液をロードした。
3.80ボルトで1時間ゲルを電気泳動した。
4.DNAサイズマーカー(New England Biolabs, 100bpラダーおよびラムダのHindIII消化物)にしたがって、特定のDNAサイズに対応する小片を切り出した。前記特定のゲルフラグメントに含まれるDNAサイズは以下のとおりであった:90から300塩基(ベース)、300から500ベース、500から1000ベース、1.0から1.5キロベース(“kb”)、1.5から23kbおよび>23kb。
5.キアエクス(QIAEX)IIゲル抽出キット(Qiagen、カタログ番号:20021)を用いて前記DNAをアガロースゲル片から精製し、35μLのトリス塩酸(pH8.0、10mM)に溶出させた。
Y染色体由来配列(SRY)および染色体由来配列(GAPDH遺伝子)をアプライドバイオシステムズ(Applied Biosystems, ABI)7000配列検出系を用いリアルタイムの定量的PCRにより増幅し、サイズ分離分画における胎児DNAおよび全DNAの量を定量した。SRYのためのタックマン(TaqMan)系は以下から成っていた:増幅プライマー、SRY_Fwd:TCC TCA AAA GAA ACC GTG CATおよびSRY_Rev:AGA TTA ATG GTT GCT AAG GAC TGG AT、並びにFAM標識TaqMan MGB(小溝結合物質、Minor Groove Binder)プローブSRY_MGB:TCC CCA CAA CCT CTT。GAPDH遺伝子のためのTaqMan系は以下のプライマーおよびプローブから成っていた:GAPDH_Fwd:CCC CAC ACA CAT GCA CTT ACC、GAPDH_Rev:CCT AGT CCC AGG GCT TTG ATTおよびGAPDH_MGB:TAG GAA GGA CAG GCA AC。
表1は、調べた5件の妊娠で、胎児に由来するDNAフラグメントはほぼ完全に500塩基対よりも小さいサイズであり、300塩基よりも小さいサイズについては約70%が胎児由来であったことを示している。
材料と方法
対象者およびサンプルの処理:
妊婦由来の18mLの血液サンプルおよびその配偶者由来の9mLの血液をEDTAチューブに採集し、例1で述べたように遠心分離によって血漿を分離した。母親のバッフィーコート(すなわち、1600gで10分の第一回遠心後に得られた細胞ペレットの白色上部層)をPBSで2回洗浄した。
血漿由来DNAをハイピュア(High Pure )DNA鋳型キット(Roche)の改良物を用いて抽出し、真空を用いて200μL用に通常使用されるフィルターに前記全サンプルを通した。50μLの溶出緩衝液中に前記DNAを溶出させた。
DNAはアガロースゲルで電気泳動によってサイズ分離した。
500塩基よりも小さいサイズの分画から、21番染色体上の4ヌクレオチドリピート由来配列を文献(Li et al.、Clinical Chemistry、49(4):2003)に記載されたように多重PCR反応で増幅させた。血漿DNAの濃度が低いので、母親の血漿中の胎児DNAはセミネストPCRプロトコルを用いて調べた。
用いたSTRマーカーは以下のとおりであった:
D211S11;
D21S1270;
D21S1432;および
D21S1435
STRフラグメントの分析によって、母親のリピート配列とは長さが異なる父親の対立遺伝子の検出が可能になり、さらにピーク領域間の比率を計算することによって、正常な胎児の核型と一致しないパターンを特定することが可能になる。母親の循環系に存在するSTRの父親由来の対立遺伝子のサイズを特定することによってある種の染色体異常を非侵襲的に検出することが可能になる。さらにまた父系検査を非侵襲的態様で出生前に実施することができる。
Claims (13)
- 次の(a)〜(c)の工程、すなわち、
(a)実質的に細胞の入っていない妊婦の血漿または血清サンプルからデオキシリボ核酸(DNA)を調製し、その結果調製DNAを生じる工程と、
(b)調製DNAをサイズによって分離し、その結果分離DNAを生じる工程と、及び、
(c)分離DNAから、500またはそれ未満の塩基対のDNA分画を単離し、その結果単離した分画中に細胞外胎児DNAが濃縮される工程とを含む方法。 - (c)の工程において、分離DNAから500未満の塩基対のDNA分画を単離する、請求項1に記載の方法。
- (c)の工程において、分離DNAから300またはそれ未満の塩基対のDNA分画を単離する、請求項1に記載の方法。
- (c)の工程において、分離DNAから300未満の塩基対のDNA分画を単離する、請求項1に記載の方法。
- 前記分画中のDNAの70%が細胞外胎児DNAである、請求項4に記載の方法。
- 実質的に細胞の入っていない血漿サンプルから調製DNAを生じる、請求項1に記載の方法。
- 実質的に細胞の入っていない血清サンプルから調製DNAを生じる、請求項1に記載の方法。
- (b)の工程がクロマトグラフィーを含んでいる、請求項1に記載の方法。
- 前記クロマトグラフィーが高速液体クロマトグラフィーを含んでいる、請求項8に記載の方法。
- (b)の工程が電気泳動を含んでいる、請求項1に記載の方法。
- 前記電気泳動が毛細管電気泳動を含んでいる、請求項10に記載の方法。
- (b)の工程が密度勾配遠心分離を含んでいる、請求項1に記載の方法。
- (b)の工程がナノテクノロジー手法を含んでいる、請求項1に記載の方法。
Applications Claiming Priority (2)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
EP03405742.2A EP1524321B2 (en) | 2003-10-16 | 2003-10-16 | Non-invasive detection of fetal genetic traits |
EP03405742.2 | 2003-10-16 |
Related Parent Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
JP2010253675A Division JP5222926B2 (ja) | 2003-10-16 | 2010-11-12 | 胎児遺伝形質の非侵襲的検出 |
Publications (2)
Publication Number | Publication Date |
---|---|
JP2013121359A true JP2013121359A (ja) | 2013-06-20 |
JP5728510B2 JP5728510B2 (ja) | 2015-06-03 |
Family
ID=34354635
Family Applications (3)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
JP2004301575A Active JP4705774B2 (ja) | 2003-10-16 | 2004-10-15 | 胎児遺伝形質の非侵襲的検出 |
JP2010253675A Active JP5222926B2 (ja) | 2003-10-16 | 2010-11-12 | 胎児遺伝形質の非侵襲的検出 |
JP2013019380A Active JP5728510B2 (ja) | 2003-10-16 | 2013-02-04 | 妊婦由来のdnaを分析する方法 |
Family Applications Before (2)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
JP2004301575A Active JP4705774B2 (ja) | 2003-10-16 | 2004-10-15 | 胎児遺伝形質の非侵襲的検出 |
JP2010253675A Active JP5222926B2 (ja) | 2003-10-16 | 2010-11-12 | 胎児遺伝形質の非侵襲的検出 |
Country Status (5)
Country | Link |
---|---|
US (9) | US20050164241A1 (ja) |
EP (1) | EP1524321B2 (ja) |
JP (3) | JP4705774B2 (ja) |
AT (1) | ATE435301T1 (ja) |
DE (1) | DE60328193D1 (ja) |
Families Citing this family (170)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
DE60328193D1 (de) * | 2003-10-16 | 2009-08-13 | Sequenom Inc | Nicht invasiver Nachweis fötaler genetischer Merkmale |
US8529744B2 (en) | 2004-02-02 | 2013-09-10 | Boreal Genomics Corp. | Enrichment of nucleic acid targets |
US10337054B2 (en) | 2004-02-02 | 2019-07-02 | Quantum-Si Incorporated | Enrichment of nucleic acid targets |
JP2007526823A (ja) | 2004-02-02 | 2007-09-20 | ザ ユニバーシティ オブ ブリティッシュ コロンビア | 粒子を運動および濃縮させるためのスコダ泳動ならびに方法および装置 |
US20100216153A1 (en) | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
US8024128B2 (en) * | 2004-09-07 | 2011-09-20 | Gene Security Network, Inc. | System and method for improving clinical decisions by aggregating, validating and analysing genetic and phenotypic data |
FR2880897B1 (fr) * | 2005-01-18 | 2010-12-17 | Inst Nat Sante Rech Med | Methode de detection, non invasive, prenatale, in vitro de l'etat sain normal, de l'etat de porteur sain ou de l'etat de porteur malade de la mucoviscidose |
US20090317798A1 (en) * | 2005-06-02 | 2009-12-24 | Heid Christian A | Analysis using microfluidic partitioning devices |
US8532930B2 (en) | 2005-11-26 | 2013-09-10 | Natera, Inc. | Method for determining the number of copies of a chromosome in the genome of a target individual using genetic data from genetically related individuals |
US10083273B2 (en) | 2005-07-29 | 2018-09-25 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
US10081839B2 (en) | 2005-07-29 | 2018-09-25 | Natera, Inc | System and method for cleaning noisy genetic data and determining chromosome copy number |
US8515679B2 (en) | 2005-12-06 | 2013-08-20 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
US20070027636A1 (en) * | 2005-07-29 | 2007-02-01 | Matthew Rabinowitz | System and method for using genetic, phentoypic and clinical data to make predictions for clinical or lifestyle decisions |
US11111544B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
US9424392B2 (en) | 2005-11-26 | 2016-08-23 | Natera, Inc. | System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals |
US20070178501A1 (en) * | 2005-12-06 | 2007-08-02 | Matthew Rabinowitz | System and method for integrating and validating genotypic, phenotypic and medical information into a database according to a standardized ontology |
US11111543B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
US20070122823A1 (en) * | 2005-09-01 | 2007-05-31 | Bianchi Diana W | Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis |
EP3599609A1 (en) * | 2005-11-26 | 2020-01-29 | Natera, Inc. | System and method for cleaning noisy genetic data and using data to make predictions |
EP3591068A1 (en) * | 2006-02-02 | 2020-01-08 | The Board of Trustees of the Leland Stanford Junior University | Non-invasive fetal genetic screening by digital analysis |
US20100184043A1 (en) * | 2006-02-28 | 2010-07-22 | University Of Louisville Research Foundation | Detecting Genetic Abnormalities |
US8609338B2 (en) * | 2006-02-28 | 2013-12-17 | University Of Louisville Research Foundation, Inc. | Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms |
AU2007220991C1 (en) * | 2006-02-28 | 2013-08-15 | University Of Louisville Research Foundation | Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms |
US20100184044A1 (en) | 2006-02-28 | 2010-07-22 | University Of Louisville Research Foundation | Detecting Genetic Abnormalities |
WO2007103910A2 (en) * | 2006-03-06 | 2007-09-13 | The Trustees Of Columbia University In The City Of New York | Specific amplification of fetal dna sequences from a mixed, fetal-maternal source |
US8679741B2 (en) * | 2006-05-31 | 2014-03-25 | Sequenom, Inc. | Methods and compositions for the extraction and amplification of nucleic acid from a sample |
US20080050739A1 (en) | 2006-06-14 | 2008-02-28 | Roland Stoughton | Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats |
WO2007147074A2 (en) * | 2006-06-14 | 2007-12-21 | Living Microsystems, Inc. | Use of highly parallel snp genotyping for fetal diagnosis |
US8137912B2 (en) | 2006-06-14 | 2012-03-20 | The General Hospital Corporation | Methods for the diagnosis of fetal abnormalities |
US8372584B2 (en) * | 2006-06-14 | 2013-02-12 | The General Hospital Corporation | Rare cell analysis using sample splitting and DNA tags |
WO2007147063A2 (en) * | 2006-06-16 | 2007-12-21 | Sequenom, Inc. | Methods and compositions for the amplification, detection and quantification of nucleic acid from a sample |
WO2008070862A2 (en) * | 2006-12-07 | 2008-06-12 | Biocept, Inc. | Non-invasive prenatal genetic screen |
WO2008118988A1 (en) | 2007-03-26 | 2008-10-02 | Sequenom, Inc. | Restriction endonuclease enhanced polymorphic sequence detection |
US20100112590A1 (en) | 2007-07-23 | 2010-05-06 | The Chinese University Of Hong Kong | Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment |
US20090029377A1 (en) | 2007-07-23 | 2009-01-29 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing |
US20090053719A1 (en) | 2007-08-03 | 2009-02-26 | The Chinese University Of Hong Kong | Analysis of nucleic acids by digital pcr |
SG10201704689XA (en) | 2008-01-18 | 2017-07-28 | Harvard College | Methods of detecting signatures of disease or conditions in bodily fluids |
WO2009094772A1 (en) | 2008-02-01 | 2009-08-06 | The University Of British Columbia | Methods and apparatus for particle introduction and recovery |
WO2009103110A1 (en) * | 2008-02-18 | 2009-08-27 | Genetic Technologies Limited | Cell processing and/or enrichment methods |
US20110033862A1 (en) * | 2008-02-19 | 2011-02-10 | Gene Security Network, Inc. | Methods for cell genotyping |
AU2009223671B2 (en) * | 2008-03-11 | 2014-11-27 | Sequenom, Inc. | Nucleic acid-based tests for prenatal gender determination |
AU2009228312B2 (en) | 2008-03-26 | 2015-05-21 | Sequenom, Inc. | Restriction endonuclease enhanced polymorphic sequence detection |
US20110092763A1 (en) * | 2008-05-27 | 2011-04-21 | Gene Security Network, Inc. | Methods for Embryo Characterization and Comparison |
EP2128169A1 (de) * | 2008-05-30 | 2009-12-02 | Qiagen GmbH | Verfahren zur Isolierung von kurzkettigen Nukleinsäuren |
WO2010009440A2 (en) * | 2008-07-18 | 2010-01-21 | Biocept, Inc. | Non-invasive fetal rhd genotyping from maternal whole blood |
CA2731991C (en) | 2008-08-04 | 2021-06-08 | Gene Security Network, Inc. | Methods for allele calling and ploidy calling |
US8962247B2 (en) | 2008-09-16 | 2015-02-24 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses |
US8476013B2 (en) | 2008-09-16 | 2013-07-02 | Sequenom, Inc. | Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
EP3103871B1 (en) | 2008-09-16 | 2020-07-29 | Sequenom, Inc. | Processes for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for fetal nucleic acid quantification |
CA3069081C (en) | 2008-09-20 | 2023-05-23 | The Board Of Trustees Of The Leland Stanford Junior University | Noninvasive diagnosis of fetal aneuploidy by sequencing |
EP3211095B1 (en) | 2009-04-03 | 2019-01-02 | Sequenom, Inc. | Nucleic acid preparation compositions and methods |
WO2010121381A1 (en) | 2009-04-21 | 2010-10-28 | The University Of British Columbia | System and methods for detection of particles |
SG175282A1 (en) | 2009-04-21 | 2011-11-28 | Genetic Technologies Ltd | Methods for obtaining fetal genetic material |
ES2640776T3 (es) | 2009-09-30 | 2017-11-06 | Natera, Inc. | Métodos para denominar de forma no invasiva ploidía prenatal |
FI3783110T3 (fi) | 2009-11-05 | 2023-03-02 | Fetaalisen genomin analyysi maternaalisesta biologisesta näytteestä | |
BR112012010708A2 (pt) | 2009-11-06 | 2016-03-29 | Univ Hong Kong Chinese | método para realizar diagnóstico pré-natal, e, produto de programa de computador |
EP3660165B1 (en) | 2009-12-22 | 2023-01-04 | Sequenom, Inc. | Processes and kits for identifying aneuploidy |
CA2786564A1 (en) | 2010-01-19 | 2011-07-28 | Verinata Health, Inc. | Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing |
US20110312503A1 (en) | 2010-01-23 | 2011-12-22 | Artemis Health, Inc. | Methods of fetal abnormality detection |
US8774488B2 (en) | 2010-03-11 | 2014-07-08 | Cellscape Corporation | Method and device for identification of nucleated red blood cells from a maternal blood sample |
AU2011255641A1 (en) | 2010-05-18 | 2012-12-06 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US11408031B2 (en) | 2010-05-18 | 2022-08-09 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
US20190010543A1 (en) | 2010-05-18 | 2019-01-10 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11326208B2 (en) | 2010-05-18 | 2022-05-10 | Natera, Inc. | Methods for nested PCR amplification of cell-free DNA |
US11322224B2 (en) | 2010-05-18 | 2022-05-03 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US11939634B2 (en) | 2010-05-18 | 2024-03-26 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11339429B2 (en) | 2010-05-18 | 2022-05-24 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US9677118B2 (en) | 2014-04-21 | 2017-06-13 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US10316362B2 (en) | 2010-05-18 | 2019-06-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11332793B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11332785B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
SG185723A1 (en) | 2010-06-07 | 2013-01-30 | Esoterix Genetic Lab Llc | Enumeration of nucleic acids |
MX361944B (es) | 2010-07-23 | 2018-12-19 | President And Fellows Of Harvard College Star | Metodos para detectar firmas de enfermedad o condiciones en fluidos corporales. |
JP2013541323A (ja) | 2010-07-23 | 2013-11-14 | プレジデント アンド フェロウズ オブ ハーバード カレッジ | 貪食細胞を用いて疾患または症状のシグネチャを検出する方法 |
US20130203624A1 (en) | 2010-07-23 | 2013-08-08 | President And Fellows Of Harvard College | Methods of Detecting Prenatal or Pregnancy-Related Diseases or Conditions |
AU2011280997A1 (en) | 2010-07-23 | 2013-02-28 | President And Fellows Of Harvard College | Methods of detecting autoimmune or immune-related diseases or conditions |
US20120034603A1 (en) * | 2010-08-06 | 2012-02-09 | Tandem Diagnostics, Inc. | Ligation-based detection of genetic variants |
AU2011293355A1 (en) * | 2010-08-24 | 2013-03-14 | Bio Dx, Inc. | Defining diagnostic and therapeutic targets of conserved free floating fetal DNA in maternal circulating blood |
ES2770342T3 (es) | 2010-12-22 | 2020-07-01 | Natera Inc | Procedimientos para pruebas prenatales no invasivas de paternidad |
US10131947B2 (en) * | 2011-01-25 | 2018-11-20 | Ariosa Diagnostics, Inc. | Noninvasive detection of fetal aneuploidy in egg donor pregnancies |
CA2824387C (en) | 2011-02-09 | 2019-09-24 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
GB2488358A (en) | 2011-02-25 | 2012-08-29 | Univ Plymouth | Enrichment of foetal DNA in maternal plasma |
US9260753B2 (en) | 2011-03-24 | 2016-02-16 | President And Fellows Of Harvard College | Single cell nucleic acid detection and analysis |
AU2012249531B2 (en) | 2011-04-29 | 2017-06-29 | Sequenom, Inc. | Quantification of a minority nucleic acid species |
CA2742327A1 (en) | 2011-05-20 | 2012-11-20 | The University Of British Columiba | Systems and methods for enhanced scoda |
US20140235474A1 (en) | 2011-06-24 | 2014-08-21 | Sequenom, Inc. | Methods and processes for non invasive assessment of a genetic variation |
JP6013332B2 (ja) * | 2011-06-27 | 2016-10-25 | オリンパス株式会社 | 標的粒子の計数方法 |
CA2791118C (en) | 2011-06-29 | 2019-05-07 | Furnan Jiang | Noninvasive detection of fetal genetic abnormality |
US9984198B2 (en) | 2011-10-06 | 2018-05-29 | Sequenom, Inc. | Reducing sequence read count error in assessment of complex genetic variations |
US10196681B2 (en) | 2011-10-06 | 2019-02-05 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US9367663B2 (en) | 2011-10-06 | 2016-06-14 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
CA2850785C (en) | 2011-10-06 | 2022-12-13 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US10424394B2 (en) | 2011-10-06 | 2019-09-24 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
JP2014533509A (ja) * | 2011-11-17 | 2014-12-15 | セルスケープ・コーポレーション | 細胞を取得し、解析するための方法、装置及びキット |
WO2013104994A2 (en) | 2012-01-13 | 2013-07-18 | The University Of British Columbia | Multiple arm apparatus and methods for separation of particles |
ES2929923T3 (es) | 2012-01-20 | 2022-12-02 | Sequenom Inc | Procesos de diagnóstico que condicionan las condiciones experimentales |
EP2820129A1 (en) | 2012-03-02 | 2015-01-07 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US9892230B2 (en) | 2012-03-08 | 2018-02-13 | The Chinese University Of Hong Kong | Size-based analysis of fetal or tumor DNA fraction in plasma |
WO2013166444A2 (en) | 2012-05-04 | 2013-11-07 | Boreal Genomics Corp. | Biomarker analysis using scodaphoresis |
CA2874343C (en) | 2012-05-21 | 2021-11-09 | Fluidigm Corporation | Single-particle analysis of particle populations |
US9920361B2 (en) | 2012-05-21 | 2018-03-20 | Sequenom, Inc. | Methods and compositions for analyzing nucleic acid |
US10504613B2 (en) | 2012-12-20 | 2019-12-10 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US11261494B2 (en) | 2012-06-21 | 2022-03-01 | The Chinese University Of Hong Kong | Method of measuring a fractional concentration of tumor DNA |
US10497461B2 (en) | 2012-06-22 | 2019-12-03 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US20140093873A1 (en) | 2012-07-13 | 2014-04-03 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
US20160040229A1 (en) | 2013-08-16 | 2016-02-11 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
US10876152B2 (en) | 2012-09-04 | 2020-12-29 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
IL269097B2 (en) | 2012-09-04 | 2024-01-01 | Guardant Health Inc | Systems and methods for detecting rare mutations and changes in number of copies |
US11913065B2 (en) | 2012-09-04 | 2024-02-27 | Guardent Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
US10482994B2 (en) | 2012-10-04 | 2019-11-19 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US20130309666A1 (en) | 2013-01-25 | 2013-11-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US10494675B2 (en) | 2013-03-09 | 2019-12-03 | Cell Mdx, Llc | Methods of detecting cancer |
US11585814B2 (en) | 2013-03-09 | 2023-02-21 | Immunis.Ai, Inc. | Methods of detecting prostate cancer |
EP2971100A1 (en) | 2013-03-13 | 2016-01-20 | Sequenom, Inc. | Primers for dna methylation analysis |
KR20150132216A (ko) | 2013-03-15 | 2015-11-25 | 더 차이니즈 유니버시티 오브 홍콩 | 다태 임신에 대한 태아 게놈의 결정 |
US9340835B2 (en) | 2013-03-15 | 2016-05-17 | Boreal Genomics Corp. | Method for separating homoduplexed and heteroduplexed nucleic acids |
PL2981921T3 (pl) | 2013-04-03 | 2023-05-08 | Sequenom, Inc. | Metody i procesy nieinwazyjnej oceny zmienności genetycznych |
EP3004383B1 (en) | 2013-05-24 | 2019-04-24 | Sequenom, Inc. | Methods for non-invasive assessment of genetic variations using area-under-curve (auc) analysis |
AU2014284180B2 (en) | 2013-06-21 | 2020-03-19 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
EP3968023A1 (en) | 2013-08-19 | 2022-03-16 | Singular Bio Inc. | Assays for single molecule detection and use thereof |
US10262755B2 (en) | 2014-04-21 | 2019-04-16 | Natera, Inc. | Detecting cancer mutations and aneuploidy in chromosomal segments |
US9499870B2 (en) | 2013-09-27 | 2016-11-22 | Natera, Inc. | Cell free DNA diagnostic testing standards |
US10577655B2 (en) | 2013-09-27 | 2020-03-03 | Natera, Inc. | Cell free DNA diagnostic testing standards |
WO2015051163A2 (en) | 2013-10-04 | 2015-04-09 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
CA2925111C (en) | 2013-10-07 | 2024-01-16 | Sequenom, Inc. | Methods and processes for non-invasive assessment of chromosome alterations |
CA2934822A1 (en) | 2013-12-28 | 2015-07-02 | Guardant Health, Inc. | Methods and systems for detecting genetic variants |
GB2524948A (en) * | 2014-03-07 | 2015-10-14 | Oxford Gene Technology Operations Ltd | Detecting Increase or Decrease in the Amount of a Nucleic Acid having a Sequence of Interest |
EP3736344A1 (en) | 2014-03-13 | 2020-11-11 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
RU2717641C2 (ru) | 2014-04-21 | 2020-03-24 | Натера, Инк. | Обнаружение мутаций и плоидности в хромосомных сегментах |
EP2942400A1 (en) | 2014-05-09 | 2015-11-11 | Lifecodexx AG | Multiplex detection of DNA that originates from a specific cell-type |
EP3140421B8 (en) | 2014-05-09 | 2020-05-06 | Eurofins LifeCodexx GmbH | Detection of dna that originates from a specific cell-type and related methods |
KR20160010277A (ko) | 2014-07-18 | 2016-01-27 | 에스케이텔레콤 주식회사 | 산모의 무세포 dna의 차세대 서열분석을 통한 태아의 단일유전자 유전변이의 예측방법 |
EP4358097A1 (en) | 2014-07-25 | 2024-04-24 | University of Washington | Methods of determining tissues and/or cell types giving rise to cell-free dna, and methods of identifying a disease or disorder using same |
US11783911B2 (en) | 2014-07-30 | 2023-10-10 | Sequenom, Inc | Methods and processes for non-invasive assessment of genetic variations |
WO2016040843A1 (en) | 2014-09-11 | 2016-03-17 | Harry Stylli | Methods of detecting prostate cancer |
US10364467B2 (en) | 2015-01-13 | 2019-07-30 | The Chinese University Of Hong Kong | Using size and number aberrations in plasma DNA for detecting cancer |
PT3256605T (pt) | 2015-02-10 | 2022-03-17 | Univ Hong Kong Chinese | Deteção de mutações para rastreio de cancro e análise fetal |
US11739371B2 (en) | 2015-02-18 | 2023-08-29 | Invitae Corporation | Arrays for single molecule detection and use thereof |
US11168351B2 (en) | 2015-03-05 | 2021-11-09 | Streck, Inc. | Stabilization of nucleic acids in urine |
WO2016183106A1 (en) | 2015-05-11 | 2016-11-17 | Natera, Inc. | Methods and compositions for determining ploidy |
US11130986B2 (en) | 2015-05-20 | 2021-09-28 | Quantum-Si Incorporated | Method for isolating target nucleic acid using heteroduplex binding proteins |
ES2796501T3 (es) * | 2015-10-10 | 2020-11-27 | Guardant Health Inc | Métodos y aplicaciones de la detección de fusión de genes en el análisis de ADN sin células |
HUE050491T2 (hu) | 2015-11-10 | 2020-12-28 | Eurofins Lifecodexx Gmbh | Magzati kromoszomális aneuploidiák kimutatása olyan DNS régiókat alkalmazva, amelyek különbözõképpen vannak metilezve a magzat és a terhes nõstény között |
US20170145475A1 (en) | 2015-11-20 | 2017-05-25 | Streck, Inc. | Single spin process for blood plasma separation and plasma composition including preservative |
SG11201805119QA (en) | 2015-12-17 | 2018-07-30 | Guardant Health Inc | Methods to determine tumor gene copy number by analysis of cell-free dna |
US11708574B2 (en) | 2016-06-10 | 2023-07-25 | Myriad Women's Health, Inc. | Nucleic acid sequencing adapters and uses thereof |
WO2018013837A1 (en) | 2016-07-15 | 2018-01-18 | The Regents Of The University Of California | Methods of producing nucleic acid libraries |
WO2018022890A1 (en) | 2016-07-27 | 2018-02-01 | Sequenom, Inc. | Genetic copy number alteration classifications |
WO2018022991A1 (en) | 2016-07-29 | 2018-02-01 | Streck, Inc. | Suspension composition for hematology analysis control |
EP3518974A4 (en) | 2016-09-29 | 2020-05-27 | Myriad Women's Health, Inc. | NON-INVASIVE PRENATAL SCREENING USING DYNAMIC ITERATIVE DEEP OPTIMIZATION |
US9850523B1 (en) | 2016-09-30 | 2017-12-26 | Guardant Health, Inc. | Methods for multi-resolution analysis of cell-free nucleic acids |
KR20210158870A (ko) | 2016-09-30 | 2021-12-31 | 가던트 헬쓰, 인크. | 무세포 핵산의 다중-해상도 분석 방법 |
US11485996B2 (en) | 2016-10-04 | 2022-11-01 | Natera, Inc. | Methods for characterizing copy number variation using proximity-litigation sequencing |
EP3535415A4 (en) | 2016-10-24 | 2020-07-01 | The Chinese University of Hong Kong | TUMOR DETECTION METHODS AND SYSTEMS |
US10011870B2 (en) | 2016-12-07 | 2018-07-03 | Natera, Inc. | Compositions and methods for identifying nucleic acid molecules |
JP7237003B2 (ja) | 2017-01-24 | 2023-03-10 | セクエノム, インコーポレイテッド | 遺伝子片の評価のための方法およびプロセス |
TWI803477B (zh) | 2017-01-25 | 2023-06-01 | 香港中文大學 | 使用核酸片段之診斷應用 |
EP3585889A1 (en) | 2017-02-21 | 2020-01-01 | Natera, Inc. | Compositions, methods, and kits for isolating nucleic acids |
WO2018175907A1 (en) | 2017-03-24 | 2018-09-27 | Counsyl, Inc. | Copy number variant caller |
US20200299677A1 (en) | 2017-10-27 | 2020-09-24 | Juno Diagnostics, Inc. | Devices, systems and methods for ultra-low volume liquid biopsy |
US11584929B2 (en) | 2018-01-12 | 2023-02-21 | Claret Bioscience, Llc | Methods and compositions for analyzing nucleic acid |
AU2019280712A1 (en) | 2018-06-06 | 2021-01-07 | The Regents Of The University Of California | Methods of producing nucleic acid libraries and compositions and kits for practicing same |
CA3102103A1 (en) | 2018-06-18 | 2019-12-26 | Baxalta Incorporated | Bottom section for being connected to an assembly with plate settler, and assembly with plate settler |
US11525159B2 (en) | 2018-07-03 | 2022-12-13 | Natera, Inc. | Methods for detection of donor-derived cell-free DNA |
TWI725686B (zh) | 2018-12-26 | 2021-04-21 | 財團法人工業技術研究院 | 用於產生液珠的管狀結構及液珠產生方法 |
JP2022519045A (ja) | 2019-01-31 | 2022-03-18 | ガーダント ヘルス, インコーポレイテッド | 無細胞dnaを単離するための組成物および方法 |
US20220259637A1 (en) | 2019-06-28 | 2022-08-18 | Qiagen Gmbh | Method for enriching nucleic acids by size |
TW202136283A (zh) | 2019-12-12 | 2021-10-01 | 日商武田藥品工業股份有限公司 | 連續性的蛋白質回收方法 |
US20230120825A1 (en) * | 2020-02-28 | 2023-04-20 | Laboratory Corporation Of America Holdings | Compositions, Methods, and Systems for Paternity Determination |
EP4150074A1 (en) | 2020-05-14 | 2023-03-22 | Sequenom, Inc. | Methods, systems, and compositions for the analysis of cell-free nucleic acids |
Citations (2)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
JP2001513648A (ja) * | 1997-03-04 | 2001-09-04 | アイシス・イノベーション・リミテッド | 非侵入性の出生前診断 |
WO2003074723A2 (en) * | 2002-03-01 | 2003-09-12 | Ravgen, Inc. | Methods for detection of genetic disorders |
Family Cites Families (4)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US5599666A (en) * | 1994-03-28 | 1997-02-04 | Promega Corporation | Allelic ladders for short tandem repeat loci |
WO1996027420A1 (en) * | 1995-03-08 | 1996-09-12 | Bioseparations, Inc. | Method for enriching rare cell population |
JP2006521086A (ja) | 2003-02-28 | 2006-09-21 | ラブジェン, インコーポレイテッド | 遺伝子疾患の検出方法 |
DE60328193D1 (de) | 2003-10-16 | 2009-08-13 | Sequenom Inc | Nicht invasiver Nachweis fötaler genetischer Merkmale |
-
2003
- 2003-10-16 DE DE60328193T patent/DE60328193D1/de not_active Expired - Lifetime
- 2003-10-16 AT AT03405742T patent/ATE435301T1/de not_active IP Right Cessation
- 2003-10-16 EP EP03405742.2A patent/EP1524321B2/en not_active Expired - Lifetime
-
2004
- 2004-10-15 JP JP2004301575A patent/JP4705774B2/ja active Active
- 2004-10-15 US US10/964,726 patent/US20050164241A1/en not_active Abandoned
-
2007
- 2007-09-14 US US11/855,558 patent/US7838647B2/en active Active
-
2010
- 2010-11-12 JP JP2010253675A patent/JP5222926B2/ja active Active
-
2011
- 2011-02-17 US US13/029,995 patent/US9580751B2/en active Active
- 2011-02-17 US US13/029,999 patent/US20110245482A1/en not_active Abandoned
-
2012
- 2012-07-24 US US13/557,025 patent/US20120302741A1/en not_active Abandoned
-
2013
- 2013-02-01 US US13/757,637 patent/US9738931B2/en active Active
- 2013-02-04 JP JP2013019380A patent/JP5728510B2/ja active Active
- 2013-02-27 US US13/779,300 patent/US20130190483A1/en not_active Abandoned
-
2017
- 2017-07-18 US US15/653,401 patent/US20170321279A1/en not_active Abandoned
-
2021
- 2021-05-11 US US17/317,240 patent/US20210262035A1/en active Pending
Patent Citations (2)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
JP2001513648A (ja) * | 1997-03-04 | 2001-09-04 | アイシス・イノベーション・リミテッド | 非侵入性の出生前診断 |
WO2003074723A2 (en) * | 2002-03-01 | 2003-09-12 | Ravgen, Inc. | Methods for detection of genetic disorders |
Non-Patent Citations (1)
Title |
---|
JPN6014028107; 日本産科婦人科学会雑誌 vol.55, no.2, 200302, p.474[P-910] * |
Also Published As
Publication number | Publication date |
---|---|
JP2011087584A (ja) | 2011-05-06 |
EP1524321B1 (en) | 2009-07-01 |
EP1524321B2 (en) | 2014-07-23 |
JP5728510B2 (ja) | 2015-06-03 |
US20170321279A1 (en) | 2017-11-09 |
US9738931B2 (en) | 2017-08-22 |
US20080071076A1 (en) | 2008-03-20 |
US20140193808A1 (en) | 2014-07-10 |
US20110251076A1 (en) | 2011-10-13 |
JP2005160470A (ja) | 2005-06-23 |
US20120302741A1 (en) | 2012-11-29 |
US7838647B2 (en) | 2010-11-23 |
ATE435301T1 (de) | 2009-07-15 |
US20130190483A1 (en) | 2013-07-25 |
JP5222926B2 (ja) | 2013-06-26 |
US20050164241A1 (en) | 2005-07-28 |
EP1524321A1 (en) | 2005-04-20 |
US9580751B2 (en) | 2017-02-28 |
JP4705774B2 (ja) | 2011-06-22 |
US20110245482A1 (en) | 2011-10-06 |
DE60328193D1 (de) | 2009-08-13 |
US20210262035A1 (en) | 2021-08-26 |
Similar Documents
Publication | Publication Date | Title |
---|---|---|
JP5222926B2 (ja) | 胎児遺伝形質の非侵襲的検出 | |
US5846710A (en) | Method for the detection of genetic diseases and gene sequence variations by single nucleotide primer extension | |
JP2005514956A (ja) | 胎児dnaの検出および対立遺伝子の定量化のための方法 | |
WO1996030545A9 (en) | Mutation detection by differential primer extension of mutant and wildtype target sequences | |
CN108060227B (zh) | 一种检测pah基因突变的扩增引物、试剂盒及其检测方法 | |
Jackson et al. | Rapid genetic screening for haemochromatosis using heteroduplex technology | |
Bunge et al. | [3] Simple and nonisotopic methods to detect unknown gene mutations in nucleic acids | |
Bareil et al. | Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders | |
JP2002531147A (ja) | ゲノムにおける点変異の同定方法 | |
JP4871284B2 (ja) | 誘発ヘテロデュプレックスジェネレータの改良 | |
JP2007202552A (ja) | 核酸における点変異及び/又は大規模変更をアッセイするための方法及び組成物、並びに遺伝疾病及び癌の診断におけるそれらの使用 | |
US20060121461A1 (en) | Methods for identifying and isolating unique nucleic acid sequences | |
Li‐Sucholeiki et al. | Scanning the β‐globin gene for mutations in large populations by denaturing capillary and gel electrophoresis | |
Budowle et al. | The application of PCR to forensic science | |
RU2800084C2 (ru) | Способ получения молекулярных STR-маркеров Х-хромосомы для идентификации неизвестного индивида и определения биологического родства для работы с образцами малых количеств ДНК и набор олигонуклеотидов для его осуществления | |
US20130157875A1 (en) | Methods for assessing genomic instabilities | |
CN117987538A (zh) | 用于检测depdc5突变基因的试剂在制备诊断或预测家族性局灶性癫痫伴可变灶1型的试剂盒中的应用 | |
EP2149612A1 (en) | Genetic markers of response to efalizumab | |
Nagy et al. | Prenatal Detection of the Δf 508 Mutation Using Fluorescent Pcr and Comparison of the Results with Conventional PCR | |
Glickman et al. | Introduction to DNA-based genetic diagnostics | |
Chen et al. | Typing of the HLA-DRB3 gene by temperature gradient gel electrophoresis prediction of the resolution of four allelic fragments by computational simulation of DNA melting | |
JP2007512231A5 (ja) | ||
Pfäffle | Diagnosis of endocrine disorders with molecular genetic methods | |
Oligny | Molecular genetics and diagnostic | |
WO2005061728A1 (en) | Methods and compositions for assaying mutations in nucleic acids |
Legal Events
Date | Code | Title | Description |
---|---|---|---|
A521 | Request for written amendment filed |
Free format text: JAPANESE INTERMEDIATE CODE: A523 Effective date: 20130212 |
|
A621 | Written request for application examination |
Free format text: JAPANESE INTERMEDIATE CODE: A621 Effective date: 20130212 |
|
A131 | Notification of reasons for refusal |
Free format text: JAPANESE INTERMEDIATE CODE: A131 Effective date: 20140708 |
|
A601 | Written request for extension of time |
Free format text: JAPANESE INTERMEDIATE CODE: A601 Effective date: 20141007 |
|
A602 | Written permission of extension of time |
Free format text: JAPANESE INTERMEDIATE CODE: A602 Effective date: 20141010 |
|
A521 | Request for written amendment filed |
Free format text: JAPANESE INTERMEDIATE CODE: A523 Effective date: 20141027 |
|
TRDD | Decision of grant or rejection written | ||
A01 | Written decision to grant a patent or to grant a registration (utility model) |
Free format text: JAPANESE INTERMEDIATE CODE: A01 Effective date: 20150310 |
|
A61 | First payment of annual fees (during grant procedure) |
Free format text: JAPANESE INTERMEDIATE CODE: A61 Effective date: 20150406 |
|
R150 | Certificate of patent or registration of utility model |
Ref document number: 5728510 Country of ref document: JP Free format text: JAPANESE INTERMEDIATE CODE: R150 |
|
R250 | Receipt of annual fees |
Free format text: JAPANESE INTERMEDIATE CODE: R250 |
|
R250 | Receipt of annual fees |
Free format text: JAPANESE INTERMEDIATE CODE: R250 |
|
R250 | Receipt of annual fees |
Free format text: JAPANESE INTERMEDIATE CODE: R250 |
|
R250 | Receipt of annual fees |
Free format text: JAPANESE INTERMEDIATE CODE: R250 |
|
R250 | Receipt of annual fees |
Free format text: JAPANESE INTERMEDIATE CODE: R250 |
|
R250 | Receipt of annual fees |
Free format text: JAPANESE INTERMEDIATE CODE: R250 |
|
R250 | Receipt of annual fees |
Free format text: JAPANESE INTERMEDIATE CODE: R250 |