Human genetic studies of smoking behavior have been thus far largely limited to common
variants. Studying rare coding variants has the potential to identify drug targets. We …

Pharmaceutical companies have increasingly utilized genomic data for the selection of drug
targets and the development of precision medicine approaches. Most major pharmaceutical …

Background Nasopharyngeal carcinoma (NPC) is closely associated with genetic factors
and Epstein-Barr virus infection, showing strong familial aggregation. Individuals with a …

Human aging is marked by the emergence of a tapestry of clonal expansions in dividing
tissues, particularly evident in blood as clonal hematopoiesis (CH). CH, linked to cancer risk …

Genome-wide association studies have successfully discovered thousands of common
variants associated with human diseases and traits, but the landscape of rare variation in …

A long-standing recognition that information from human genetics studies has the potential
to accelerate drug discovery has led to decades of research on how to leverage genetic and …

Understanding the penetrance of pathogenic variants identified as secondary findings (SFs)
is of paramount importance with the growing availability of genetic testing. We estimated …

Large-scale gene sequencing studies for complex traits have the potential to identify causal
genes with therapeutic implications. We performed gene-based association testing of blood …

Purpose The study aimed to systematically ascertain male sex chromosome abnormalities,
47, XXY (Klinefelter syndrome [KS]) and 47, XYY, and characterize their risks of adverse …

We were interested to read the recent update on recommendations for reporting of
secondary findings in clinical sequencing 1 and the accompanying updated list of genes in …