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Paper Details

A complete pedigree-based graph workflow for rare candidate variant analysis.
Genome Res
2
2022
DVs, Pangenome, SNVs, Undiagnosed Diseases, deleterious, linear genome reference, linear-reference, pangenome, pangenome graph, pangenome graphs, rare diseases, single-nucleotide variants
Author NameAffiliation
Andrew CarrollGoogle Incorporated
Thomas C MarkelloNational Human Genome Research Institute, National Institutes of Health
David HausslerUC Santa Cruz Genomics Institute
David HausslerHoward Hughes Medical Institute, University of California
David HausslerUC Santa Cruz Genomics Institute
David HausslerHoward Hughes Medical Institute, University of California
Benedict PatenUC Santa Cruz Genomics Institute
Benedict PatenUC Santa Cruz Genomics Institute
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