The consistent and unambiguous description of sequence variants is essential to report and
exchange information on the analysis of a genome. In particular, DNA diagnostics critically …

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

Unambiguous and correct sequence variant descriptions are of utmost importance, not in the
least since mistakes and uncertainties may lead to undesired errors in clinical diagnosis. We …

Motivation Unambiguous variant descriptions are of utmost importance in clinical genetic
diagnostics, scientific literature and genetic databases. The Human Genome Variation …

Abstract ClinVar (https://www. ncbi. nlm. nih. gov/clinvar/) at the National Center for
Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical …

As our knowledge of the complexity of gene architecture grows, and we increase our
understanding of the subtleties of gene expression, the process of accurately describing …

VarFish is a user-friendly web application for the quality control, filtering, prioritization,
analysis, and user-based annotation of DNA variant data with a focus on rare disease …

Here we describe the Genome Variation Format (GVF) and the 10Gen dataset. GVF, an
extension of Generic Feature Format version 3 (GFF3), is a simple tab-delimited format for …

Genome‐scale sequencing creates vast amounts of genomic data, increasing the challenge
of clinical sequence variant interpretation. The demand for high‐quality interpretation …

In 2015, the American College of Medical Genetics and Genomics (ACMG) and the
Association for Molecular Pathology (AMP) published updated standards and guidelines for …