Systems and methods to detect rare mutations and copy number variation

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United States of America Patent

PATENT NO 10894974
APP PUB NO 20180023125A1
SERIAL NO

15669779

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Abstract

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The present disclosure provides a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides. Generally, the systems and methods comprise sample preparation, or the extraction and isolation of cell free polynucleotide sequences from a bodily fluid; subsequent sequencing of cell free polynucleotides by techniques known in the art; and application of bioinformatics tools to detect rare mutations and copy number variations as compared to a reference. The systems and methods also may contain a database or collection of different rare mutations or copy number variation profiles of different diseases, to be used as additional references in aiding detection of rare mutations, copy number variation profiling or general genetic profiling of a disease.

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Patent Owner(s)

Patent OwnerAddress
GUARDANT HEALTH INC505 PENOBSCOT DRIVE REDWOOD CITY CA 94063

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Mortimer, Stefanie Ann Ward Morgan Hill, US 67 469
Talasaz, AmirAli Atherton, US 111 2633

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