Endophenotype Effect Sizes Provide Evidence Supporting Variant Pathogenicity in Monogenic Disease Susceptibility Genes
Jennifer L. Halford, Valerie N. Morrill, Seung Hoan Choi, Sean Joseph Jurgens, Giorgio E. M. Melloni, Nicholas Marston, Lu-Chen C Weng, Victor D. Nauffal, Amelia Weber Hall, Sophia Gunn, Christina Anne Austin-Tse, James P. Pirruccello, Shaan S. Khurshid, Heidi L. Rehm, Emelia J. Benjamin, , Steven A. Lubitz
The paper shows that variant effect sizes on quantitative endophenotypes support pathogenicity in monogenic disease genes.
Nature Communications · Aug 30, 2022Peer-reviewedGenetic & Genomic Medicine