Using cell-free DNA fragment size to determine copy number variations

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United States of America Patent

PATENT NO 11430541
APP PUB NO 20190065676A1
SERIAL NO

16119993

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Abstract

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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.

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Patent Owner(s)

Patent OwnerAddress
VERINATA HEALTH INC1531 INDUSTRIAL ROAD SAN CARLOS CA 94070

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Barbacioru, Catalin Fremont, US 31 182
Chen, Gengxin Foster City, US 9 59
Chudova, Darya I San Jose, US 38 738
Comstock, David A Millbrae, US 26 1766
Duenwald, Sven Milbrae, US 6 90
Jones, Keith W Sunnyvale, US 45 1499
Rava, Richard P Redwood City, US 134 13046
Skvortsov, Dimitri Orinda, US 4 52

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