Reference population databases are an essential tool in variant and gene interpretation.
Their use guides the identification of pathogenic variants amidst the sea of benign variation …

This review commemorates the 40th anniversary of DNA sequencing, a period in which we
have already witnessed multiple technological revolutions and a growth in scale from a few …

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

Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …

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 …

Anti–PD-1–based immunotherapy has had a major impact on cancer treatment but has only
benefited a subset of patients. Among the variables that could contribute to interpatient …

Preclinical mouse models suggest that the gut microbiome modulates tumor response to
checkpoint blockade immunotherapy; however, this has not been well-characterized in …

Combinatorial binding of transcription factors to regulatory DNA underpins gene regulation
in all organisms. Genetic variation in regulatory regions has been connected with diseases …

Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …

We are performing whole-genome sequencing of families with autism spectrum disorder
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …