Verinata Health, Inc.

Life Technologies Corporation

Gengxin Chen

Richard P Rava

Darya Chudova

Keith W Jones

David A Comstock

Catalin Barbacioru

Dimitri Skvortsov

Sven Duenwald

Niroshan Ramachandran

David Bourdon

Lihao Meng

Suzy Van Le

Darya I Chudova

Niroshan Ramchandran

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.

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

The disclosure provides SLE biomarkers. The disclosure further provides kits and methods of diagnosing, prognosing, and stratifying subjects with the disease by utilizing SLE biomarkers.

Biomarkers for systemic lupus erythematosus

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Foster City, CA, United States of America

Gengxin Chen