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

In the era of big data, transformation of biomedical big data into valuable knowledge has
been one of the most important challenges in bioinformatics. Deep learning has advanced …

Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …

Copper is an essential metal required for many metalloproteins' function. A fraction of dietary
copper (average 2–5 mg/day) is absorbed by enterocytes in the duodenum and proximal …

The physiology of a cell can be viewed as the product of thousands of proteins acting in
concert to shape the cellular response. Coordination is achieved in part through networks of …

Although base editors are widely used to install targeted point mutations, the factors that
determine base editing outcomes are not well understood. We characterized sequence …

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 …

Many common variants have been associated with hematological traits, but identification of
causal genes and pathways has proven challenging. We performed a genome-wide …

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

Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting
from knockouts of these genes in mice have provided tremendous insight into gene function …