China’s large, multi-generational pedigrees provide a distinctive genomic resource for precision medicine but present a governance challenge. We propose a new framework that addresses the core ...

Whole-genome sequencing (WGS) is becoming increasingly common in clinical settings, with many laboratories already using it to identify the genetic causes of rare and undiagnosed genetic diseases ...

A new study from deCODE genetics uses pedigrees and sequence data from 64,806 Icelanders to shed light on the rate and nature of mutations in mitochondrial DNA (mtDNA) and the peculiar dynamics of its ...

Causal Cascade of Symptoms on Patient Functioning and Health-Related Quality of Life in Non–Small Cell Lung Cancer and Metastatic Breast Cancer Studying rare genetic conditions often requires ...