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Article

Comparison of genetic variants in matched samples using thesaurus annotation.

Bioinformatics (Oxford, England) - 1 Mar 2016

Konopka Tomasz, Nijman Sebastian M B

Abstract excerpt

MOTIVATION: Calling changes in DNA, e.g. as a result of somatic events in cancer, requires analysis of multiple matched sequenced samples. Events in low-mappability regions of the human genome are difficult to encode in variant call files and have been under-reported as a result. However, they can be described accurately through thesaurus annotation-a technique that links multiple genomic loci together to...

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PMID: 26545822
DOI: 10.1093/bioinformatics/btv654
PMCID: PMC4795618

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