公开(公告)号：US20150031034A1

公开(公告)日：2015-01-29

申请号：US14493264

申请日：2014-09-22

Applicant: Bio-Rad Laboratories, Inc.

Inventor： Benjamin Hindson ,  Serge Saxonov ,  Philip Belgrader ,  Kevin Ness ,  Michael Lucero ,  Billy Colston

IPC: C12Q1/68

CPC classification number: C12Q1/6806 ,  C12Q1/6827 ,  C12Q2537/157 ,  C12Q2563/161 ,  C12Q2533/107 ,  C12Q2521/319

Abstract: This invention provides compositions and methods for detecting differences in copy number of a target polynucleotide. In some cases, the methods and compositions provided herein are useful for diagnosis of fetal genetic abnormalities, when the starting sample is maternal tissue (e.g., blood, plasma). The methods and materials described apply techniques for allowing detection of small, but statistically significant, differences in polynucleotide copy number.

Abstract translation: 本发明提供了用于检测靶多核苷酸拷贝数差异的组合物和方法。 在一些情况下，当起始样品是母体组织（例如血液，血浆）时，本文提供的方法和组合物可用于诊断胎儿遗传异常。 描述的方法和材料适用于允许检测多核苷酸拷贝数的小但统计学上显着的差异的技术。