Recent advances in genome sequencing technologies provide unprecedented opportunities
to characterize individual genomic landscapes and identify mutations relevant for diagnosis�…

Genome and exome sequencing yield extensive catalogues of human genetic variation.
However, pinpointing the few phenotypically causal variants among the many variants�…

A major goal in human genetics is to use natural variation to understand the phenotypic
consequences of altering each protein-coding gene in the genome. Here we used exome�…

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�…

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�…

DNA damage repair (DDR) pathways modulate cancer risk, progression, and therapeutic
response. We systematically analyzed somatic alterations to provide a comprehensive view�…

As the outbreak of coronavirus disease 2019 (COVID-19) progresses, prognostic markers for
early identification of high-risk individuals are an urgent medical need. Italy has one of the�…

INTRODUCTION Obesity accounts for a substantial and growing burden of disease globally.
Body adiposity is highly heritable, and human genetic studies can lead to biological and�…

The purpose of the dbNSFP is to provide a one‐stop resource for functional predictions and
annotations for human nonsynonymous single‐nucleotide variants (nsSNVs) and splice‐site�…

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