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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Bibliographische Detailangaben
Hauptverfasser: KIMURA, Yoshitaka, MEYERS, Jacob, MARTIN, Patrick Kevin, KAMBEROV, Emmanuel, LALIBERTE, Julie Catherine
Format: Patent
Sprache:eng ; fre ; ger
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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