Article

A Complete Pedigree-Based Graph Workflow for Rare Candidate Variant Analysis

2021-11-25

Abstract excerpt

Methods that use a linear genome reference for genome sequencing data analysis are reference biased. In the field of clinical genetics for rare diseases, a resulting reduction in genotyping accuracy in some regions has likely prevented the resolution of some cases. Pangenome graphs embed population variation into a reference structure. While pangenome graphs have helped to reduce reference mapping bias, further pe...

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Literature Corpus work: b69ea360-cc6a-5101-937f-defe781bb4fc
DOI: 10.1101/2021.11.24.469912

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