Method for finding variants from targeted sequencing panels

US2015073724A1 · US · A1

Patent metadata
FieldValue
Publication numberUS-2015073724-A1
Application numberUS-201414288299-A
CountryUS
Kind codeA1
Filing dateMay 27, 2014
Priority dateJul 29, 2013
Publication dateMar 12, 2015
Grant date

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Abstract

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Provided herein is a method for identifying a sequence variant in an enriched sample. In certain embodiments, this method may comprise: (a) obtaining: (i) a plurality of sequence reads from a sample that has been enriched for a genomic region and (ii) a reference sequence for the genomic region; (b) assembling the sequence reads to obtain a plurality of discrete sequence assemblies that correspond to potential variants; (c) determining which of the potential variants are true and which are artifacts by examining the sequence reads that make up each of the discrete sequence assemblies; (d) optionally determining whether each of the true potential variants contains a mutation that is known to be associated with the reference sequence; and (e) outputting a report indicating whether the sample comprises a sequence variant.

First claim

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What is claimed is: 1 . A method for identifying a sequence variant, comprising: (a) obtaining: (i) a plurality of sequence reads from a sample that has been enriched for a genomic region and (ii) a reference sequence for the genomic region; (b) assembling the sequence reads to obtain a plurality of discrete sequence assemblies each of which corresponding to a potential variant; (c) determining which of the potential variants are true and which are artifacts by examining the…

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What does patent US2015073724A1 cover?
Provided herein is a method for identifying a sequence variant in an enriched sample. In certain embodiments, this method may comprise: (a) obtaining: (i) a plurality of sequence reads from a sample that has been enriched for a genomic region and (ii) a reference sequence for the genomic region; (b) assembling the sequence reads to obtain a plurality of discrete sequence assemblies that corresp…
Who is the assignee on this patent?
Agilent Technologies Inc
What technology area does this patent fall under?
Primary CPC classification G06F19/22. Mapped technology areas include Physics.
When was this patent published?
Publication date Thu Mar 12 2015 00:00:00 GMT+0000 (Coordinated Universal Time) (A1). Legal status and post-grant events are not shown on this page.
What related patents are in patentsdb?
We list 8 related publications on this page (citations in our corpus or others sharing the same primary CPC).