DETERMINING THE CLINICAL SIGNIFICANCE OF VARIANT SEQUENCES

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United States of America Patent

APP PUB NO 20130324417A1
SERIAL NO

13488142

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ATTORNEY / AGENT: (SPONSORED)

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Abstract

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The present invention generally relates to determining the clinical significance of a variant nucleic acid sequence. The invention can involve sequencing a nucleic acid to generate at least one sequence read, identifying a variant sequence within the sequence read, determining the equivalent insertion/deletion region (EIR) of the variant sequence, identifying a functional region including at least a portion of the EIR, and associating the EIR with the identified functional region, thereby to determine the clinical significance of the variant.

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Patent Owner(s)

Patent OwnerAddress
INVITAE CORPORATION1400 16TH STREET SAN FRANCISCO CA 94103

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Kennedy, Caleb Arlington, US 12 363
Porreca, Greg Cambridge, US 1 42
Umbarger, Mark Brookline, US 38 517

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