IL163600A0 - Methods for detection of genetic disorders - Google Patents

Methods for detection of genetic disorders

Info

Publication number
IL163600A0
IL163600A0 IL16360003A IL16360003A IL163600A0 IL 163600 A0 IL163600 A0 IL 163600A0 IL 16360003 A IL16360003 A IL 16360003A IL 16360003 A IL16360003 A IL 16360003A IL 163600 A0 IL163600 A0 IL 163600A0
Authority
IL
Israel
Prior art keywords
detection
methods
genetic disorders
genetic
disorders
Prior art date
Application number
IL16360003A
Other languages
English (en)
Original Assignee
Ravgen Inc
Priority date (The priority date 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 date listed.)
Filing date
Publication date
Priority claimed from US10/093,618 external-priority patent/US6977162B2/en
Application filed by Ravgen Inc filed Critical Ravgen Inc
Publication of IL163600A0 publication Critical patent/IL163600A0/xx

Links

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
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • C12Q1/683—Hybridisation assays for detection of mutation or polymorphism involving restriction enzymes, e.g. restriction fragment length polymorphism [RFLP]
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H21/00—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
    • C07H21/02—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids with ribosyl as saccharide radical
    • 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
    • C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
    • 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/6858—Allele-specific amplification
    • 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
    • C12Q2521/00—Reaction characterised by the enzymatic activity
    • C12Q2521/30—Phosphoric diester hydrolysing, i.e. nuclease
    • C12Q2521/313—Type II endonucleases, i.e. cutting outside recognition site
    • 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
    • C12Q2525/00—Reactions involving modified oligonucleotides, nucleic acids, or nucleotides
    • C12Q2525/10—Modifications characterised by
    • C12Q2525/131—Modifications characterised by incorporating a restriction site
    • 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
    • C12Q2533/00—Reactions characterised by the enzymatic reaction principle used
    • C12Q2533/10—Reactions characterised by the enzymatic reaction principle used the purpose being to increase the length of an oligonucleotide strand
    • C12Q2533/101—Primer extension
    • 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
    • C12Q2535/00—Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
    • C12Q2535/125—Allele specific primer extension
    • 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
    • C12Q2545/00—Reactions characterised by their quantitative nature
    • C12Q2545/10—Reactions characterised by their quantitative nature the purpose being quantitative analysis
    • C12Q2545/114—Reactions characterised by their quantitative nature the purpose being quantitative analysis involving a quantitation step
IL16360003A 2002-03-01 2003-02-28 Methods for detection of genetic disorders IL163600A0 (en)

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US36023202P 2002-03-01 2002-03-01
US10/093,618 US6977162B2 (en) 2002-03-01 2002-03-11 Rapid analysis of variations in a genome
US37835402P 2002-05-08 2002-05-08
PCT/US2003/006198 WO2003074723A2 (en) 2002-03-01 2003-02-28 Methods for detection of genetic disorders

Publications (1)

Publication Number Publication Date
IL163600A0 true IL163600A0 (en) 2005-12-18

Family

ID=27792098

Family Applications (3)

Application Number Title Priority Date Filing Date
IL16359703A IL163597A0 (en) 2002-03-01 2003-02-28 Rapid analysis of variations in a genome
IL16360003A IL163600A0 (en) 2002-03-01 2003-02-28 Methods for detection of genetic disorders
IL163600A IL163600A (en) 2002-03-01 2004-08-18 Methods for detecting abnormalities in the chromosome by using a site of interest

Family Applications Before (1)

Application Number Title Priority Date Filing Date
IL16359703A IL163597A0 (en) 2002-03-01 2003-02-28 Rapid analysis of variations in a genome

Family Applications After (1)

Application Number Title Priority Date Filing Date
IL163600A IL163600A (en) 2002-03-01 2004-08-18 Methods for detecting abnormalities in the chromosome by using a site of interest

Country Status (13)

Country Link
US (2) US7208274B2 (xx)
EP (2) EP1481097A4 (xx)
JP (2) JP2006523082A (xx)
KR (2) KR20040105744A (xx)
CN (2) CN1650032A (xx)
AU (2) AU2003225634B2 (xx)
BR (2) BR0308134A (xx)
CA (2) CA2477761A1 (xx)
CO (2) CO5631457A2 (xx)
IL (3) IL163597A0 (xx)
MX (2) MXPA04008472A (xx)
NZ (2) NZ535044A (xx)
WO (2) WO2003074740A1 (xx)

Families Citing this family (127)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7407943B2 (en) 2001-08-01 2008-08-05 Isis Pharmaceuticals, Inc. Antisense modulation of apolipoprotein B expression
US7888324B2 (en) 2001-08-01 2011-02-15 Genzyme Corporation Antisense modulation of apolipoprotein B expression
WO2003067399A2 (en) * 2002-02-07 2003-08-14 Byington Carrie L Method for creating and using a treatment protocol
CN1650032A (zh) 2002-03-01 2005-08-03 拉瓦格恩公司 检测遗传疾病的方法
US6977162B2 (en) * 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
US7442506B2 (en) * 2002-05-08 2008-10-28 Ravgen, Inc. Methods for detection of genetic disorders
US7727720B2 (en) * 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders
US20070178478A1 (en) * 2002-05-08 2007-08-02 Dhallan Ravinder S Methods for detection of genetic disorders
US7511131B2 (en) 2002-11-13 2009-03-31 Genzyme Corporation Antisense modulation of apolipoprotein B expression
US8688385B2 (en) * 2003-02-20 2014-04-01 Mayo Foundation For Medical Education And Research Methods for selecting initial doses of psychotropic medications based on a CYP2D6 genotype
CN101985619B (zh) * 2003-10-08 2014-08-20 波士顿大学信托人 染色体异常的产前诊断方法
ATE435301T1 (de) * 2003-10-16 2009-07-15 Sequenom Inc Nicht invasiver nachweis fötaler genetischer merkmale
WO2005072133A2 (en) * 2004-01-27 2005-08-11 Zoragen, Inc. Nucleic acid detection
US20050287558A1 (en) 2004-05-05 2005-12-29 Crooke Rosanne M SNPs of apolipoprotein B and modulation of their expression
EP1624074A1 (fr) * 2004-08-06 2006-02-08 Neurolab Marqueurs et procédés pour le dépistage prénatal d'anomalies chromosomiques
JP5219516B2 (ja) * 2005-03-18 2013-06-26 ザ チャイニーズ ユニバーシティー オブ ホンコン 染色体異数性の検出方法
GB0508983D0 (en) * 2005-05-03 2005-06-08 Oxford Gene Tech Ip Ltd Cell analyser
US11111544B2 (en) 2005-07-29 2021-09-07 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
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
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
WO2007062164A2 (en) * 2005-11-26 2007-05-31 Gene Security Network Llc System and method for cleaning noisy genetic data and using data to make predictions
US20090326042A1 (en) 2006-05-05 2009-12-31 Isis Pharmaceuticals, Inc Compounds and methods for modulating expression of crp
CA2655272C (en) * 2006-06-14 2017-04-18 Living Microsystems, Inc. Rare cell analysis using sample splitting and dna tags
US20080050739A1 (en) 2006-06-14 2008-02-28 Roland Stoughton Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
EP2589668A1 (en) 2006-06-14 2013-05-08 Verinata Health, Inc Rare cell analysis using sample splitting and DNA tags
JP4922778B2 (ja) * 2007-01-31 2012-04-25 株式会社日立ハイテクノロジーズ 遺伝子検査結果判定法およびプログラムおよびその装置
RU2015127794A (ru) 2007-03-24 2018-12-21 Касл Терапьютикс, ЭлЭлСи Введение антисмысловых олигонуклеотидов, комплементарных человеческому аполипопротеину в
ITTO20070307A1 (it) * 2007-05-04 2008-11-05 Silicon Biosystems Spa Metodo e dispositivo per la diagnosi prenatale non-invasiva
MX353428B (es) * 2007-05-21 2018-01-12 Genentech Inc Métodos y composiciones para identificar y tratar lupus.
US20090038024A1 (en) * 2007-06-19 2009-02-05 The Regents Of The University Of California Cap/sorbs1 and diabetes
US20100304990A1 (en) * 2007-07-16 2010-12-02 Gifford David K Ruler arrays
PT2557517T (pt) 2007-07-23 2023-01-04 Univ Hong Kong Chinese Determinação de um desequilíbrio de sequências de ácido nucleico
US20100112590A1 (en) 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
CN101999003A (zh) * 2008-02-12 2011-03-30 诺瓦蒂斯公司 分离无细胞凋亡或胎儿核酸的方法
WO2010012002A1 (en) * 2008-07-25 2010-01-28 Saryna Medical Corporation Methods and systems for genetic analysis of fetal nucleated red blood cells
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
EP2408796B1 (en) 2009-03-16 2020-04-22 Ionis Pharmaceuticals, Inc. Targeting Apolipoprotein B for the reduction of Apolipoprotein C-III
US9447467B2 (en) 2009-04-21 2016-09-20 Genetic Technologies Limited Methods for obtaining fetal genetic material
US20110070590A1 (en) 2009-09-22 2011-03-24 Jan Rohozinski Primers and Methods for Determining RhD Zygosity
EP2473638B1 (en) 2009-09-30 2017-08-09 Natera, Inc. Methods for non-invasive prenatal ploidy calling
RS63944B1 (sr) * 2009-11-05 2023-02-28 Univ Hong Kong Chinese Analiza genoma fetusa iz biološkog uzorka majke
SG181543A1 (en) * 2009-12-15 2012-07-30 Agency Science Tech & Res Processing of amplified dna fragments for sequencing
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US20120100548A1 (en) 2010-10-26 2012-04-26 Verinata Health, Inc. Method for determining copy number variations
US8700341B2 (en) 2010-01-19 2014-04-15 Verinata Health, Inc. Partition defined detection methods
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
EP2366031B1 (en) 2010-01-19 2015-01-21 Verinata Health, Inc Sequencing methods in prenatal diagnoses
CN101851673B (zh) * 2010-01-26 2013-06-12 中国人民解放军总医院 一种检测人6种免疫相关基因的标签单核苷酸多态性位点方法
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
US11339429B2 (en) 2010-05-18 2022-05-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
WO2011146632A1 (en) 2010-05-18 2011-11-24 Gene Security Network Inc. Methods for non-invasive prenatal ploidy calling
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US11332785B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US8700338B2 (en) 2011-01-25 2014-04-15 Ariosa Diagnosis, Inc. Risk calculation for evaluation of fetal aneuploidy
US20120034603A1 (en) 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
US10167508B2 (en) 2010-08-06 2019-01-01 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
US11031095B2 (en) 2010-08-06 2021-06-08 Ariosa Diagnostics, Inc. Assay systems for determination of fetal copy number variation
US11203786B2 (en) 2010-08-06 2021-12-21 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US20140342940A1 (en) 2011-01-25 2014-11-20 Ariosa Diagnostics, Inc. Detection of Target Nucleic Acids using Hybridization
US10533223B2 (en) 2010-08-06 2020-01-14 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US20130040375A1 (en) 2011-08-08 2013-02-14 Tandem Diagnotics, Inc. Assay systems for genetic analysis
US20130261003A1 (en) 2010-08-06 2013-10-03 Ariosa Diagnostics, In. Ligation-based detection of genetic variants
DK2609216T3 (en) 2010-08-24 2016-09-12 Dana Farber Cancer Inst Inc Methods to predict anti-cancer response
CN102206701B (zh) * 2010-09-19 2015-01-21 深圳华大基因科技有限公司 遗传性疾病相关基因的鉴定方法
CN101962684B (zh) * 2010-11-04 2012-03-28 徐州师范大学 黄牛pcsk1基因的单核苷酸多态性及其检测方法
JP6328934B2 (ja) 2010-12-22 2018-05-23 ナテラ， インコーポレイテッド 非侵襲性出生前親子鑑定法
US8756020B2 (en) 2011-01-25 2014-06-17 Ariosa Diagnostics, Inc. Enhanced risk probabilities using biomolecule estimations
US11270781B2 (en) 2011-01-25 2022-03-08 Ariosa Diagnostics, Inc. Statistical analysis for non-invasive sex chromosome aneuploidy determination
US9994897B2 (en) 2013-03-08 2018-06-12 Ariosa Diagnostics, Inc. Non-invasive fetal sex determination
US10131947B2 (en) 2011-01-25 2018-11-20 Ariosa Diagnostics, Inc. Noninvasive detection of fetal aneuploidy in egg donor pregnancies
EP3546595B1 (en) 2011-01-25 2023-02-15 Roche Diagnostics GmbH Risk calculation for evaluation of fetal aneuploidy
AU2011358564B9 (en) 2011-02-09 2017-07-13 Natera, Inc Methods for non-invasive prenatal ploidy calling
CN107988343A (zh) * 2011-02-09 2018-05-04 纳特拉公司 非侵入性产前倍性识别方法
HUE050032T2 (hu) * 2011-04-12 2020-11-30 Verinata Health Inc Genomfrakciók feloldása polimorfizmus-szám alkalmazásával
US9411937B2 (en) 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
EP2721181B1 (en) 2011-06-17 2019-12-18 Myriad Genetics, Inc. Methods and materials for assessing allelic imbalance
US8712697B2 (en) 2011-09-07 2014-04-29 Ariosa Diagnostics, Inc. Determination of copy number variations using binomial probability calculations
AU2012358244A1 (en) 2011-12-21 2014-06-12 Myriad Genetics, Inc. Methods and materials for assessing loss of heterozygosity
EP2817630B1 (en) 2012-02-23 2018-07-11 Children's Medical Center Corporation Methods for predicting anti-cancer response
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
US10289800B2 (en) 2012-05-21 2019-05-14 Ariosa Diagnostics, Inc. Processes for calculating phased fetal genomic sequences
WO2013182645A1 (en) 2012-06-07 2013-12-12 Institut Curie Methods for detecting inactivation of the homologous recombination pathway (brca1/2) in human tumors
US20150275298A1 (en) * 2012-06-15 2015-10-01 Harry Stylli Methods of detecting diseases or conditions
CA2878979C (en) 2012-07-13 2021-09-14 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
CN104583421A (zh) 2012-07-19 2015-04-29 阿瑞奥萨诊断公司 遗传变体的基于多重的顺序连接的检测
WO2014134790A1 (zh) * 2013-03-06 2014-09-12 广州百赫医疗信息科技有限公司 神经纤维瘤病pcr诊断试剂盒
CN103131787B (zh) * 2013-03-11 2014-05-21 四川大学 基于y染色体snp遗传标记的法医学复合检测试剂盒
US10308986B2 (en) 2013-03-14 2019-06-04 Children's Medical Center Corporation Cancer diagnosis, treatment selection and treatment
WO2014182595A1 (en) 2013-05-06 2014-11-13 Mikko Sofia Diagnostic test for skeletal atavism in horses
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
IL285106B (en) 2013-11-07 2022-09-01 Univ Leland Stanford Junior Clean nucleic acids are suitable for analyzing the human microbiome and its parts
EP3080292B1 (en) 2013-12-09 2022-02-02 Institut Curie Methods for detecting inactivation of the homologous recombination pathway (brca1/2) in human tumors
EP3117011B1 (en) 2014-03-13 2020-05-06 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CN113774132A (zh) 2014-04-21 2021-12-10 纳特拉公司 检测染色体片段中的突变和倍性
WO2016025958A1 (en) 2014-08-15 2016-02-18 Myriad Genetics, Inc. Methods and materials for assessing homologous recombination deficiency
KR101707536B1 (ko) * 2014-11-20 2017-02-16 한국과학기술원 컨트롤 조직 부재 샘플 내 낮은 빈도의 체성 결손 검출 방법
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
US11168351B2 (en) 2015-03-05 2021-11-09 Streck, Inc. Stabilization of nucleic acids in urine
EP3279339B1 (en) 2015-03-31 2020-08-26 FUJIFILM Corporation Method for determining gene state of fetus
US11479812B2 (en) 2015-05-11 2022-10-25 Natera, Inc. Methods and compositions for determining ploidy
CN104892711B (zh) * 2015-05-18 2017-11-07 中国科学技术大学 基于芯片进行规模化快速制备单根寡核苷酸的方法
CN105296613A (zh) * 2015-09-24 2016-02-03 郑州市职业病防治院 一种人TERF1基因rs3863242位点多态性检测技术
US20170145475A1 (en) 2015-11-20 2017-05-25 Streck, Inc. Single spin process for blood plasma separation and plasma composition including preservative
KR101961642B1 (ko) 2016-04-25 2019-03-25 (주)진매트릭스 절단된 상보적인 태그 절편을 이용한 표적 핵산 서열 검출 방법 및 그 조성물
WO2018022991A1 (en) 2016-07-29 2018-02-01 Streck, Inc. Suspension composition for hematology analysis control
WO2018067517A1 (en) 2016-10-04 2018-04-12 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
CA3049139A1 (en) 2017-02-21 2018-08-30 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
CN108693131B (zh) * 2018-04-17 2023-12-01 云南中烟工业有限责任公司 一种烟草黄化病判定方法
CN108315445A (zh) * 2018-04-26 2018-07-24 兰州大学 一种检测绵羊sry基因的单核苷酸多态性的方法与应用
US11525159B2 (en) 2018-07-03 2022-12-13 Natera, Inc. Methods for detection of donor-derived cell-free DNA
CN110106238A (zh) * 2019-05-17 2019-08-09 北京康旭医学检验所有限公司 一种用于检测x染色体失活的双重pcr分子诊断试剂盒
CN112301119A (zh) * 2019-07-29 2021-02-02 北京宠耀基因科技服务有限公司 猫类多重遗传病筛查的方法、引物和试剂盒
WO2021075764A1 (ko) * 2019-10-15 2021-04-22 프로지니어 주식회사 다중 바이오마커 검출 방법
CN113265461B (zh) * 2021-07-02 2022-05-13 北京华诺奥美医学检验实验室有限公司 一种用于检测高频基因致病变异的引物组和探针组及试剂盒
JP2023184021A (ja) * 2022-06-17 2023-12-28 株式会社日立製作所 遺伝子分析方法、遺伝子分析装置、及び遺伝子分析用キット

Family Cites Families (107)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US4521509A (en) 1982-11-24 1985-06-04 Research Corporation Method for degrading DNA
US4683202A (en) 1985-03-28 1987-07-28 Cetus Corporation Process for amplifying nucleic acid sequences
US6197563B1 (en) 1985-03-28 2001-03-06 Roche Molecular Systems, Inc. Kits for amplifying and detecting nucleic acid sequences
US4965188A (en) 1986-08-22 1990-10-23 Cetus Corporation Process for amplifying, detecting, and/or cloning nucleic acid sequences using a thermostable enzyme
US4683195A (en) 1986-01-30 1987-07-28 Cetus Corporation Process for amplifying, detecting, and/or-cloning nucleic acid sequences
US4800159A (en) 1986-02-07 1989-01-24 Cetus Corporation Process for amplifying, detecting, and/or cloning nucleic acid sequences
US4889818A (en) 1986-08-22 1989-12-26 Cetus Corporation Purified thermostable enzyme
US5079352A (en) 1986-08-22 1992-01-07 Cetus Corporation Purified thermostable enzyme
US5541308A (en) 1986-11-24 1996-07-30 Gen-Probe Incorporated Nucleic acid probes for detection and/or quantitation of non-viral organisms
US4994372A (en) * 1987-01-14 1991-02-19 President And Fellows Of Harvard College DNA sequencing
US5817797A (en) 1988-06-01 1998-10-06 The United States Of America As Represented By The Department Of Health And Human Services Sequencing DNA; a modification of the polymerase chain reaction
GB2222785B (en) * 1988-09-17 1992-02-12 Usui Kokusai Sangyo Kk Multi-layered pipe coating
US5091310A (en) 1988-09-23 1992-02-25 Cetus Corporation Structure-independent dna amplification by the polymerase chain reaction
US5066584A (en) 1988-09-23 1991-11-19 Cetus Corporation Methods for generating single stranded dna by the polymerase chain reaction
US5075216A (en) 1988-09-23 1991-12-24 Cetus Corporation Methods for dna sequencing with thermus aquaticus dna polymerase
CA1339731C (en) 1988-10-12 1998-03-17 Charles T. Caskey Multiplex genomic dna amplification for deletion detection
US5639611A (en) 1988-12-12 1997-06-17 City Of Hope Allele specific polymerase chain reaction
US5023171A (en) 1989-08-10 1991-06-11 Mayo Foundation For Medical Education And Research Method for gene splicing by overlap extension using the polymerase chain reaction
US5068191A (en) 1989-08-31 1991-11-26 The Biomembrane Institute Purified histo-blood group a glycosyltransferase and antibodies thereto
US5641628A (en) 1989-11-13 1997-06-24 Children's Medical Center Corporation Non-invasive method for isolation and detection of fetal DNA
EP0502037A1 (en) 1989-11-24 1992-09-09 Isis Innovation Limited Prenatal genetic determination
US5104792A (en) 1989-12-21 1992-04-14 The United States Of America As Represented By The Department Of Health And Human Services Method for amplifying unknown nucleic acid sequences
US6013431A (en) * 1990-02-16 2000-01-11 Molecular Tool, Inc. Method for determining specific nucleotide variations by primer extension in the presence of mixture of labeled nucleotides and terminators
US5153117A (en) * 1990-03-27 1992-10-06 Genetype A.G. Fetal cell recovery method
US5098839A (en) * 1990-05-10 1992-03-24 New England Biolabs, Inc. Type ii restriction endonuclease obtainable from pseudomonas alcaligenes and a process for producing the same
US5635348A (en) * 1990-10-05 1997-06-03 Hoffmann-La Roche Inc. Method and probes for identifying bacteria found in blood
US5545552A (en) 1990-12-03 1996-08-13 Stratagene Purified thermostable pyrococcus furiosus DNA polymerase I
US6004744A (en) * 1991-03-05 1999-12-21 Molecular Tool, Inc. Method for determining nucleotide identity through extension of immobilized primer
CA2218875C (en) 1991-07-23 2000-11-07 The Research Foundation Of State University Of New York Improvements in the in situ pcr
US5759772A (en) 1992-07-23 1998-06-02 Wisconsin Alumni Research Foundation Method for determining the sex of an embryo
ES2194843T3 (es) 1992-09-11 2003-12-01 Hoffmann La Roche Deteccion de acidos nucleicos en sangre.
US5565339A (en) 1992-10-08 1996-10-15 Hoffmann-La Roche Inc. Compositions and methods for inhibiting dimerization of primers during storage of polymerase chain reaction reagents
GB9223035D0 (en) 1992-11-03 1992-12-16 Kiessling Cooper Ann A Preservation of peripheral blood & semen in fixatives that inactivate human pathogens
US5744301A (en) 1992-11-25 1998-04-28 Brigham And Women's Hospital Methods of detection of epstein barr virus induced genes expressed in the placenta
WO1995006137A1 (en) 1993-08-27 1995-03-02 Australian Red Cross Society Detection of genes
US5426026A (en) * 1993-09-15 1995-06-20 University Of Pittsburgh PCR identification of four medically important candida species using one primer pair and four species-specific probes
US6017699A (en) 1993-09-15 2000-01-25 The University Of Pittsburgh PCR identification and quantification of important Candida species
US5538848A (en) 1994-11-16 1996-07-23 Applied Biosystems Division, Perkin-Elmer Corp. Method for detecting nucleic acid amplification using self-quenching fluorescence probe
CH686982A5 (fr) 1993-12-16 1996-08-15 Maurice Stroun Méthode pour le diagnostic de cancers.
US5432054A (en) 1994-01-31 1995-07-11 Applied Imaging Method for separating rare cells from a population of cells
US6117679A (en) * 1994-02-17 2000-09-12 Maxygen, Inc. Methods for generating polynucleotides having desired characteristics by iterative selection and recombination
US5605793A (en) * 1994-02-17 1997-02-25 Affymax Technologies N.V. Methods for in vitro recombination
US6395547B1 (en) * 1994-02-17 2002-05-28 Maxygen, Inc. Methods for generating polynucleotides having desired characteristics by iterative selection and recombination
US6110709A (en) 1994-03-18 2000-08-29 The General Hospital Corporation Cleaved amplified modified polymorphic sequence detection methods
US5831065A (en) * 1994-04-04 1998-11-03 Lynx Therapeutics, Inc. Kits for DNA sequencing by stepwise ligation and cleavage
US5648222A (en) 1994-07-27 1997-07-15 The Trustees Of Columbia University In The City Of New York Method for preserving cells, and uses of said method
US5882857A (en) * 1995-06-07 1999-03-16 Behringwerke Ag Internal positive controls for nucleic acid amplification
US5631147A (en) 1995-09-21 1997-05-20 Becton, Dickinson And Company Detection of nucleic acids in cells by thermophilic strand displacement amplification
US6506602B1 (en) * 1996-03-25 2003-01-14 Maxygen, Inc. Methods for generating polynucleotides having desired characteristics by iterative selection and recombination
US6100029A (en) 1996-08-14 2000-08-08 Exact Laboratories, Inc. Methods for the detection of chromosomal aberrations
AU726045B2 (en) * 1996-08-28 2000-10-26 Johns Hopkins University School Of Medicine, The Method for detecting cell proliferative disorders
US5965363A (en) 1996-09-19 1999-10-12 Genetrace Systems Inc. Methods of preparing nucleic acids for mass spectrometric analysis
WO1998012355A1 (en) * 1996-09-19 1998-03-26 Genetrace Systems Methods of preparing nucleic acids for mass spectrometric analysis
US5858671A (en) 1996-11-01 1999-01-12 The University Of Iowa Research Foundation Iterative and regenerative DNA sequencing method
US20010051341A1 (en) 1997-03-04 2001-12-13 Isis Innovation Limited Non-invasive prenatal diagnosis
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
US6153410A (en) * 1997-03-25 2000-11-28 California Institute Of Technology Recombination of polynucleotide sequences using random or defined primers
DE19717085C2 (de) 1997-04-23 1999-06-17 Bruker Daltonik Gmbh Verfahren und Geräte für extrem schnelle DNA-Vervielfachung durch Polymerase-Kettenreaktionen (PCR)
US20020119478A1 (en) * 1997-05-30 2002-08-29 Diagen Corporation Methods for detection of nucleic acid sequences in urine
US5998141A (en) 1997-07-10 1999-12-07 Millennium Pharmaceuticals, Inc. Intronic and polymorphic SR-BI nucleic acids and uses therefor
US6124120A (en) 1997-10-08 2000-09-26 Yale University Multiple displacement amplification
US6090553A (en) 1997-10-29 2000-07-18 Beckman Coulter, Inc. Use of uracil-DNA glycosylase in genetic analysis
US6033861A (en) * 1997-11-19 2000-03-07 Incyte Genetics, Inc. Methods for obtaining nucleic acid containing a mutation
DK1036198T3 (da) * 1997-12-08 2013-01-02 California Inst Of Techn Fremgangsmåde til fremstilling af polynukleotid- og polypeptidsekvenser
US6268146B1 (en) 1998-03-13 2001-07-31 Promega Corporation Analytical methods and materials for nucleic acid detection
US6391551B1 (en) * 1998-03-13 2002-05-21 Promega Corporation Detection of nucleic acid hybrids
DE19813317A1 (de) * 1998-03-26 1999-09-30 Roche Diagnostics Gmbh Verbessertes Verfahren zur Primer Extension Präamplifikations-PCR
GB9808145D0 (en) * 1998-04-17 1998-06-17 Zeneca Ltd Assay
US6183958B1 (en) * 1998-05-06 2001-02-06 Variagenics, Inc. Probes for variance detection
DE69900949T2 (de) * 1998-09-18 2002-10-02 Micromet Ag Dns amplifizierung aus einzelnen zellen
US6703228B1 (en) * 1998-09-25 2004-03-09 Massachusetts Institute Of Technology Methods and products related to genotyping and DNA analysis
US6203989B1 (en) 1998-09-30 2001-03-20 Affymetrix, Inc. Methods and compositions for amplifying detectable signals in specific binding assays
EP1144094B1 (en) * 1998-12-04 2004-03-17 Orbital Biosciences, L.L.C. Ultrafiltration device and method of forming same
EP1024201B1 (en) 1999-01-27 2003-11-26 Commissariat A L'energie Atomique Microassay for serial analysis of gene expression and applications thereof
US6174681B1 (en) * 1999-03-05 2001-01-16 Mayo Foundation For Medical Education And Research Method and probe set for detecting cancer
US6225061B1 (en) 1999-03-10 2001-05-01 Sequenom, Inc. Systems and methods for performing reactions in an unsealed environment
US20020009394A1 (en) * 1999-04-02 2002-01-24 Hubert Koster Automated process line
US6582906B1 (en) * 1999-04-05 2003-06-24 Affymetrix, Inc. Proportional amplification of nucleic acids
FR2792000B1 (fr) * 1999-04-08 2003-04-11 Centre Nat Rech Scient Procede de cartographie d'une molecule d'adn comprenant une etape d'amplification ad infinitum
US6387621B1 (en) 1999-04-27 2002-05-14 University Of Utah Research Foundation Automated analysis of real-time nucleic acid amplification
US6440706B1 (en) * 1999-08-02 2002-08-27 Johns Hopkins University Digital amplification
CN102586228A (zh) 1999-09-13 2012-07-18 纽亘技术公司 用于多核苷酸序列线性等温扩增的方法及组合物
US6221600B1 (en) 1999-10-08 2001-04-24 Board Of Regents, The University Of Texas System Combinatorial oligonucleotide PCR: a method for rapid, global expression analysis
US7741028B2 (en) * 1999-11-12 2010-06-22 Ambry Genetics Methods of identifying genetic markers in the human cystic fibrosis transmembrane conductance regulator (CFTR) gene
US6613517B2 (en) 2000-01-15 2003-09-02 Genelabs Technologies, Inc. Nucleic acid binding assay and selection method
US6475736B1 (en) * 2000-05-23 2002-11-05 Variagenics, Inc. Methods for genetic analysis of DNA using biased amplification of polymorphic sites
GB0016742D0 (en) 2000-07-10 2000-08-30 Simeg Limited Diagnostic method
US6664056B2 (en) 2000-10-17 2003-12-16 The Chinese University Of Hong Kong Non-invasive prenatal monitoring
WO2002055985A2 (en) 2000-11-15 2002-07-18 Roche Diagnostics Corp Methods and reagents for identifying rare fetal cells in the material circulation
AU785425B2 (en) 2001-03-30 2007-05-17 Genetic Technologies Limited Methods of genomic analysis
WO2002083839A2 (en) 2001-03-30 2002-10-24 Amersham Biosciences Ab P450 single nucleotide polymorphism biochip analysis
EP1256632A3 (en) * 2001-05-07 2004-01-02 Smithkline Beecham Corporation High throughput polymorphism screening
US20030044791A1 (en) * 2001-06-13 2003-03-06 Flemington Erik Kolstad Adaptor kits and methods of use
US20050037388A1 (en) 2001-06-22 2005-02-17 University Of Geneva Method for detecting diseases caused by chromosomal imbalances
US20030054386A1 (en) 2001-06-22 2003-03-20 Stylianos Antonarakis Method for detecting diseases caused by chromosomal imbalances
US6573300B2 (en) * 2001-08-24 2003-06-03 China Medical College Hospital Hydroxyurea treatment for spinal muscular atrophy
US6995841B2 (en) * 2001-08-28 2006-02-07 Rice University Pulsed-multiline excitation for color-blind fluorescence detection
US6927028B2 (en) 2001-08-31 2005-08-09 Chinese University Of Hong Kong Non-invasive methods for detecting non-host DNA in a host using epigenetic differences between the host and non-host DNA
US7468244B2 (en) * 2001-09-27 2008-12-23 University Of Delaware Polymorphism detection and separation
US6617137B2 (en) * 2001-10-15 2003-09-09 Molecular Staging Inc. Method of amplifying whole genomes without subjecting the genome to denaturing conditions
CN1650032A (zh) * 2002-03-01 2005-08-03 拉瓦格恩公司 检测遗传疾病的方法
US6977162B2 (en) * 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
US7442506B2 (en) * 2002-05-08 2008-10-28 Ravgen, Inc. Methods for detection of genetic disorders
US7727720B2 (en) * 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders
US20070178478A1 (en) * 2002-05-08 2007-08-02 Dhallan Ravinder S Methods for detection of genetic disorders
US7108976B2 (en) 2002-06-17 2006-09-19 Affymetrix, Inc. Complexity management of genomic DNA by locus specific amplification
CA2517017A1 (en) 2003-02-28 2004-09-16 Ravgen, Inc. Methods for detection of genetic disorders

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