Summary Recommendations from the American College of Medical Genetics and Genomics
and the Association for Molecular Pathology (ACMG/AMP) for interpreting sequence variants …

One objective of human genetics is to unveil the variants that contribute to human diseases.
With the rapid development and wide use of next-generation sequencing (NGS), massive …

With the recent explosion in high-throughput genotyping technology, the amount and quality
of SNP data have increased exponentially, facilitating the discovery of multiple uncommon …

Background Lynch syndrome (LS) is a cancer predisposition syndrome affecting more than
1 in every 300 individuals worldwide. Clinical genetic testing for LS can be life-saving but is …

Abstract Purpose According to the American College of Medical Genetics and
Genomics/Association of Medical Pathology (ACMG/AMP) guidelines, in silico evidence is …

ABSTRACT Recommendations from the American College of Medical Genetics and
Genomics and the Association for Molecular Pathology (ACMG/AMP) for interpreting …

Mutations leading to a reduced or loss of function in genes of the leptin-melanocortin system
confer a risk for monogenic forms of obesity. Yet, gain of function variants in the …

Summary The ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer (HBOP) Variant
Curation Expert Panel (VCEP) is composed of internationally recognized experts in clinical …

Background Classification of rare missense variants remains an ongoing challenge in
genomic medicine. Evidence of pathogenicity is often sparse, and decisions about how to …

Motivation Germline variant classification allows accurate genetic diagnosis and risk
assessment. However, it is a tedious iterative process integrating information from several …