Article

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data

2017-06-30

Abstract excerpt

Reliable detection of large structural variation ( > 1000 bp) is important in both rare and common genetic disorders. Whole genome sequencing (WGS) is a technology that may be used to identify a large proportion of the genomic structural variants (SVs) in an individual in a single experiment. Even though SV callers have been extensively used in research to detect mutations, the potential usage of SV callers within...

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Literature Corpus work: badfa02b-914c-54ed-b5ea-d3e0711289bf
DOI: 10.12688/f1000research.11168.2

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