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1. 发明申请

WO2013177581A2 WHOLE GENOME SEQUENCING OF A HUMAN FETUS 审中-公开
标题翻译：人类全身基因测序
公开(公告)号：WO2013177581A2
公开(公告)日：2013-11-28
申请号：PCT/US2013042774
申请日：2013-05-24
申请人： UNIV WASHINGTON CT COMMERCIALI
发明人： SHENDURE JAY ASHOK , KITZMAN JACOB OTTO , SNYDER MATTHEW
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6874 , C12Q1/6869 , C12Q2535/122 , C12Q2537/165
摘要： Methods of genome sequencing of a fetus are provided herein. In some embodiments, such methods include steps of predicting inheritance or transmission of an allele from one or more maternal-only heterozygous sites from a maternal genomic sequence to a fetal genome sequence; and predicting inheritance or transmission of an allele from one or more paternal-only heterozygous sites from a paternal genomic sequence to a fetal genome sequence. In some embodiments, the methods may also include predicting transmission of one or more genomic variants at one or more heterozygous sites that are present on both a maternal genomic sequence and a paternal genomic sequence. According to these embodiments, the paternal genomic sequence and the maternal genomic sequence are derived from a biological sample containing DNA. According to other embodiments, the sequencing methods may include a step of predicting de novo mutations in a fetal genomic sequence.
摘要翻译：本文提供胎儿的基因组测序方法。在一些实施方案中，这些方法包括预测从母体基因组序列到胎儿基因组序列的一个或多个仅母体杂合位点遗传或传播等位基因的步骤; 并预测从父系基因组序列到胎儿基因组序列的一个或多个仅有父本杂合位点的等位基因的遗传或传播。在一些实施方案中，所述方法还可以包括预测存在于母体基因组序列和父系基因组序列上的一个或多个杂合位点处的一种或多种基因组变体的传递。根据这些实施方案，父系基因组序列和母体基因组序列衍生自含有DNA的生物样品。根据其他实施方案，测序方法可以包括预测胎儿基因组序列中的从头突变的步骤。

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