Article

TT-Mars: Structural Variants Assessment Based on Haplotype-resolved Assemblies

2021-09-29

Abstract excerpt

Variant benchmarking is a critical component of method development and evaluating the accuracy of studies of genetic variation. Currently, the best approach to evaluate the accuracy of a callset is the comparison against a well curated gold standard. In repetitive regions of the genome it may be difficult to establish what is the truth for a call, for example when different alignment scoring metrics provide equall...

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Literature Corpus work: 3ce0e82c-18c9-5b69-85f8-66f75710d63a
DOI: 10.1101/2021.09.27.462044

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