Method for improving the sensitivity of detection in determining copy number variations

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United States of America Patent

PATENT NO 10741269
APP PUB NO 20160239604A1
SERIAL NO

15031246

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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 (CNV) 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 removing within-sample GC-content bias. In some embodiments, removal of within-sample GC-content bias is based on sequence data corrected for systematic variation common across unaffected training samples. Also disclosed are systems and computer program products for evaluation of CNV of sequences of interest.

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Patent Owner(s)

Patent OwnerAddress
VERINATA HEALTH INC5200 ILLUMINA WAY SAN DIEGO CA 92122

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Abdueva, Diana Orinda, US 27 231
Chudova, Darya I San Jose, US 38 738
Rava, Richard P Redwood City, US 134 13046

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