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OVarFlow: a resource optimized GATK 4 based Open source Variant calling workFlow.

BMC bioinformatics - 13 Aug 2021

Bathke Jochen, Lühken Gesine

Abstract excerpt

BACKGROUND: The advent of next generation sequencing has opened new avenues for basic and applied research. One application is the discovery of sequence variants causative of a phenotypic trait or a disease pathology. The computational task of detecting and annotating sequence differences of a target dataset between a reference genome is known as "variant calling". Typically, this task is computationally...

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PMID: 34388963
DOI: 10.1186/s12859-021-04317-y
PMCID: PMC8361789

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