METHODS OF PREPARING AND ANALYZING NUCLEIC ACID LIBRARIES

Detecting different mutations in the same sample is essential, especially where the sample is limited in quantity and where high-throughput methods are desired for rapid detection of mutations. Methods routinely used in the art require separate assays for detecting different mutations or mutation ty...

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Hauptverfasser:	KAMBEROV EMMANUEL, KIMURA YOSHITAKA, MEYERS JACOB, MARTIN PATRICK KEVIN, LALIBERTE JULIE CATHERINE
Format:	Patent
Sprache:	chi ; eng
Schlagworte:	BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR COMPOSITIONS THEREOF CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES CULTURE MEDIA ENZYMOLOGY INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES MEASURING MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS METALLURGY MICROBIOLOGY MICROORGANISMS OR ENZYMES MUTATION OR GENETIC ENGINEERING PHYSICS PROCESSES OF PREPARING SUCH COMPOSITIONS PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS SPIRITS TESTING VINEGAR WINE
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Beschreibung
Zusammenfassung:	Detecting different mutations in the same sample is essential, especially where the sample is limited in quantity and where high-throughput methods are desired for rapid detection of mutations. Methods routinely used in the art require separate assays for detecting different mutations or mutation types (e.g. single nucleotide polymorphisms (SNPs) or copy number variations (CNVs)) in a sample. The present disclosure provides methods for detecting different mutations, such as SNPs and CNVs in the same sample. The methods described herein can be useful in preimplantation genetic testing, carrier screening, or genotyping. 在相同样品中检测不同突变是必不可少的，尤其是在样品数量有限且需要高通量方法以快速检测突变的情况下。本领域常规使用的方法需要单独的测定方法来检测样品中的不同突变或突变类型(例如单核苷酸多态性(SNP)或拷贝数变异(CNV))。本公开提供了用于在相同样品中检测不同突变例如SNP和CNV的方法。本文所述的方法可以用于植入前基因测试、携带者筛查或基因分型。