SYSTEM AND METHODS FOR DETECTING GENETIC VARIATION

Title:

SYSTEM AND METHODS FOR DETECTING GENETIC VARIATION

Document Type and Number:

WIPO Patent Application WO/2014/015084

Kind Code:

A3

Abstract:

The invention provides methods, apparatuses, and compositions for high- throughput amplification sequencing of specific target sequences in one or more samples. In some aspects, barcode-tagged polynucleotides are sequenced simultaneously and sample sources are identified on the basis of barcode sequences. In some aspects, sequencing data are used to determine one or more genotypes at one or more loci comprising a causal genetic variant. In some aspects, systems and methods of detecting genetic variation are provided.

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Inventors:

RICHARDS HUNTER (US)
EVANS ERIC (US)
SRINIVASAN BALAJI (US)
SRINIVASAN SUBRAMANIAM (US)
SHAH ABHIK (US)
PATTERSON A SCOTT (US)
CHU CLEMENT (US)

Application Number:

PCT/US2013/050965

Publication Date:

March 06, 2014

Filing Date:

July 17, 2013

Export Citation:

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Assignee:

COUNSYL INC (US)
RICHARDS HUNTER (US)
EVANS ERIC (US)
SRINIVASAN BALAJI (US)
SRINIVASAN SUBRAMANIAM (US)
SHAH ABHIK (US)
PATTERSON A SCOTT (US)
CHU CLEMENT (US)

International Classes:

C40B40/06

Foreign References:

US20120157322A1	2012-06-21
US20100015626A1	2010-01-21
US20020076735A1	2002-06-20
US7985565B2	2011-07-26

Other References: