Unified representation of genetic variants
نویسندگان
چکیده
منابع مشابه
Sequence analysis Unified representation of genetic variants
Summary: A genetic variant can be represented in the Variant Call Format (VCF) in multiple different ways. Inconsistent representation of variants between variant callers and analyses will magnify discrepancies between them and complicate variant filtering and duplicate removal. We present a software tool vt normalize that normalizes representation of genetic variants in the VCF. We formally de...
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ژورنال
عنوان ژورنال: Bioinformatics
سال: 2015
ISSN: 1460-2059,1367-4803
DOI: 10.1093/bioinformatics/btv112