Author
Broad InstituteORCID 0000-0001-7199-299XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
Victor D. Nauffal, Paolo Di Achille, Marcus D. R. Klarqvist…·Steven A. Lubitz
The paper uses machine learning to analyze myocardial T1 time in UK Biobank data, identifying genetic loci and pathways associated with interstitial fibrosis and related cardiovascular diseases.
William John Young, Najim Lahrouchi, Aaron J. Isaacs…·Antônio Luiz Pinho Ribeiro
Jennifer L. Halford, Valerie N. Morrill, Seung Hoan Choi…·Steven A. Lubitz
The paper shows that variant effect sizes on quantitative endophenotypes support pathogenicity in monogenic disease genes.
James P. Pirruccello, Paolo Di Achille, Victor D. Nauffal…·Patrick T. Ellinor
The paper uses deep learning and genome-wide association studies to identify genetic loci associated with right heart structure and function in 40,000 individuals.
Victor D. Nauffal, Valerie N. Morrill, Sean Joseph Jurgens…·for the TOPMed Investigators
This study investigates how rare and common genetic variations contribute to QT interval duration, finding that both monogenic and polygenic factors influence QTc prolongation, with polygenic risk modulating the effect of rare variants.
Sean Joseph Jurgens, Seung Hoan Choi, Valerie N. Morrill…·Patrick T. Ellinor
The paper identifies 51 known and 23 novel gene-disease associations using exome sequencing data from 200,000 UK Biobank participants, highlighting high-impact rare variants for 26 diseases and traits.