Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies
Abstract
Genome-scale high-throughput sequencing enables the detection of unprecedented numbers of sequence variants. Variant filtering and interpretation are facilitated by mutation databases, in silico tools, and population-based reference datasets such as ExAC/gnomAD, while variants are classified using the ACMG/AMP guidelines. These methods, however, pose clinically relevant challenges. We queried the gnomAD dataset for (likely) pathogenic variants...
Paper Details
Title
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies
Published Date
Oct 1, 2019
Journal
Volume
97
Issue
2
Pages
235 - 245
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