Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Zishan WangXiao FanYufeng ShenMeghana S PagadalaRebecca SignerKamil J CyganWilliam G FairbrotherHannah CarterWendy K ChungKuan-Lin Huang
Published in: Genome medicine (2021)
Our results demonstrate that expression-altering variants are found in a substantial fraction of cases and illustrate the yield of genomic risk assessments for a wide range of diseases across diverse populations.