Methods and systems for detecting sequence variants

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United States of America Patent

PATENT NO 9116866
SERIAL NO

14041850

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Abstract

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The invention provides methods for identifying rare variants near a structural variation in a genetic sequence, for example, in a nucleic acid sample taken from a subject. The invention additionally includes methods for aligning reads (e.g., nucleic acid reads) to a reference sequence construct accounting for the structural variation, methods for building a reference sequence construct accounting for the structural variation or the structural variation and the rare variant, and systems that use the alignment methods to identify rare variants. The method is scalable, and can be used to align millions of reads to a construct thousands of bases long, or longer.

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Patent Owner(s)

Patent OwnerAddress
SEVEN BRIDGES GENOMICS INC1 MAIN STREET SUITE 500 CAMBRIDGE MA 02142

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Kural, Deniz Somerville, US 33 869

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