发明名称 METHODS AND MATERIALS FOR ASSESSING ALLELIC IMBALANCE
摘要 Methods and systems for detecting allelic imbalance using nucleic acid sequencing are provided.
申请公布号 US2016145681(A1) 申请公布日期 2016.05.26
申请号 US201615010721 申请日期 2016.01.29
申请人 Myriad Genetics, Inc. 发明人 Gutin Alexander;Timms Kirsten;Lanchbury Jerry
分类号 C12Q1/68 主分类号 C12Q1/68
代理机构 代理人
主权项 1. An in vitro method for detecting homozygosity at a plurality of single nucleotide polymorphism loci, comprising: (1) providing a formalin-fixed paraffin-embedded sample comprising at least one tumor cell obtained from a patient; (2) enriching the sample in (1) for test DNA molecules each comprising at least one locus from the plurality of single nucleotide polymorphism loci, wherein the plurality of single nucleotide polymorphism loci comprises at least 5,000 single nucleotide polymorphism loci and wherein there is at least one single nucleotide polymorphism locus located on average every 500 kb within each chromosome; and (3) sequencing the test DNA molecules to determine whether each locus in the plurality of single nucleotide polymorphism loci is homozygous.
地址 Salt Lake City UT US