Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …

Fibroblast growth factors (FGFs) and their receptors (FGFRs) regulate numerous cellular
processes. Deregulation of FGFR signalling is observed in a subset of many cancers …

Predicting the effects of mutations in proteins is critical to many applications, from
understanding genetic disease to designing novel proteins to address our most pressing …

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

Abstract Machine learning-based models of protein fitness typically learn from either
unlabeled, evolutionarily related sequences or variant sequences with experimentally …

Abstract The Zero Childhood Cancer Program is a precision medicine program to benefit
children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline …

Whole exome sequencing has been increasingly used in human disease studies.
Prioritization based on appropriate functional annotations has been used as an …

Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as
BRCA1, and many common, mostly non-coding variants. However, much of the genetic …

INTRODUCTION Cancer genome studies have contributed to the analysis and discovery of
somatic mutations that drive cancer growth. However, studying the genetic makeup of a …

The vast majority of coding variants are rare, and assessment of the contribution of rare
variants to complex traits is hampered by low statistical power and limited functional data …