Article

Accuracy and efficiency of germline variant calling pipelines for human genome data

2020-03-29

Abstract excerpt

Advances in next-generation sequencing technology has enabled whole genome sequencing (WGS) to be widely used for identification of causal variants in a spectrum of genetic-related disorders, and provided new insight into how genetic polymorphisms affect disease phenotypes. The development of different bioinformatics pipelines has continuously improved the variant analysis of WGS data, however there is a necessity...

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Literature Corpus work: c6ff4637-a11e-5e1c-94a9-c43ca43da744
DOI: 10.1101/2020.03.27.011767

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