Article

Application of Full Genome Analysis to Diagnose Rare Monogenic Disorders

2020-10-26

Abstract excerpt

Current genetic tests for rare diseases provide a diagnosis in only a modest proportion of cases. The Full Genome Analysis method, FGA, combines long-range assembly and whole-genome sequencing to detect small variants, structural variants with breakpoint resolution, and phasing. We built a variant prioritization pipeline and tested FGA’s utility for diagnosis of rare diseases in a clinical setting. FGA identified...

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Literature Corpus work: b03e6fd2-2cf8-5eb0-9648-1c57814f6b78
DOI: 10.1101/2020.10.22.20216531

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