A complete pedigree-based graph workflow for rare candidate variant analysis.

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. Although pangenome graphs have helped to reduce reference mapping bias,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genome
• Share to High-Throughput Nucleotide Sequencing