Background Clinical genomic testing is dependent on the robust identification and reporting
of variant-level information in relation to disease. With the shift to high-throughput …

Background Clinical laboratories implement a variety of measures to classify somatic
sequence variants and identify clinically significant variants to facilitate the implementation …

Background Variant annotation is a crucial step in the analysis of genome sequencing data.
Functional annotation results can have a strong influence on the ultimate conclusions of …

PURPOSE Interpretation of genomic variants in tumor samples still presents a challenge in
research and the clinical setting. A major issue is that information for variant interpretation is …

Background To truly achieve personalized medicine in oncology, it is critical to catalog and
curate cancer sequence variants for their clinical relevance. The Somatic Working Group …

Abstract We present Gene-Aware Variant INterpretation (GAVIN), a new method that
accurately classifies variants for clinical diagnostic purposes. Classifications are based on …

Precision oncology relies on accurate discovery and interpretation of genomic variants,
enabling individualized diagnosis, prognosis and therapy selection. We found that six …

Background Next-generation sequencing (NGS) offers unprecedented opportunities to
expand clinical genomics. It also presents challenges with respect to integration with data …

Abstract The Human Genome Variation Society (HGVS) nomenclature guidelines
encourage the accurate and standard description of DNA, RNA, and protein sequence …

Abstract The Human Genome Variation Society (HGVS) variant nomenclature is widely used
to describe sequence variants in scientific publications, clinical reports, and databases …