Selection device for candidate sequence information for similarity determination, selection method, and use for such device and method
US-2015379197-A1 · Dec 31, 2015 · US
US2015073724A1 · US · A1
| Field | Value |
|---|---|
| Publication number | US-2015073724-A1 |
| Application number | US-201414288299-A |
| Country | US |
| Kind code | A1 |
| Filing date | May 27, 2014 |
| Priority date | Jul 29, 2013 |
| Publication date | Mar 12, 2015 |
| Grant date | — |
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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.
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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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