The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Oct. 09, 2018
Filed:
Dec. 16, 2016
Verinata Health, Inc., San Diego, CA (US);
Sven Duenwald, Milbrae, CA (US);
David A. Comstock, Millbrae, CA (US);
Catalin Barbacioru, Fremont, CA (US);
Darya I. Chudova, San Jose, CA (US);
Richard P. Rava, Redwood City, CA (US);
Keith W. Jones, Sunnyvale, CA (US);
Gengxin Chen, Foster City, CA (US);
Dimitri Skvortsov, Orinda, CA (US);
Verinata Health, Inc., San Diego, CA (US);
Abstract
Disclosed are methods for determining copy number variation (CNV) known or suspected to be associated with a variety of medical conditions. In some embodiments, methods are provided for determining copy number variation of fetuses using maternal samples comprising maternal and fetal cell free DNA. In some embodiments, methods are provided for determining CNVs known or suspected to be associated with a variety of medical conditions. Some embodiments disclosed herein provide methods to improve the sensitivity and/or specificity of sequence data analysis by deriving a fragment size parameter. In some implementations, information from fragments of different sizes are used to evaluate copy number variations. In some implementations, one or more t-statistics obtained from coverage information of the sequence of interest is used to evaluate copy number variations. In some implementations, one or more fetal fraction estimates are combined with one or more t-statistics to determine copy number variations.