Rare protein-coding variation and the genetic architecture of height in >1.4 million individuals
Jack A. Kosmicki, Liron Ganel, Kyoko Watanabe, Tyler Joseph et autres
0 citationsmedRxiv
Jack A. Kosmicki
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108Publications signalées
44244Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Genomics and Rare DiseasesGenetic Associations and EpidemiologyGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research
Publications récentes
Population-scale repeat expansions elucidate disease risk and brain atrophy
Vijay Kumar Pounraja, Jae Hoon Sul, Joseph L. Herman, Sean O’Keeffe et autres
3 citationsNature
Germline Variants in Chronic Pancreatitis-Associated Genes and Risk of Pancreatic Ductal Adenocarcinoma
Samuel O. Antwi, Kari G. Rabe, Erin E. Carlson, Hugues Sicotte et autres
0 citationsClinical Gastroenterology and Hepatology
Genomic Ascertainment of CHEK2 -Related Cancer Predisposition
Sun Young Kim, Jung Kim, Mark Ramos, Jeremy S. Haley et autres
5 citationsJAMA Network Open
Computationally efficient meta-analysis of gene-based tests using summary statistics in large-scale genetic studies
Tyler Joseph, Joelle Mbatchou, Arkopravo Ghosh, Anthony Marcketta et autres
5 citationsNature Genetics
Variant Classification Using Proteomics‐Informed Large Language Models Increases Power of Rare Variant Association Studies and Enhances Target Discovery
Christopher E. Gillies, Joelle Mbatchou, Lukas Habegger, Michael D. Kessler et autres
2 citationsGenetic Epidemiology
Variant Classification Using Proteomics-Informed Large Language Models Increases Power of Rare Variant Association Studies and Enhances Target Discovery
Christopher E. Gillies, Joelle Mbatchou, Lukas Habegger, Michael D. Kessler et autres
0 citationsbioRxiv (Cold Spring Harbor Laboratory)
Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants
Hongbo Liu, Amin Abedini, Eunji Ha, Ziyuan Ma et autres
57 citationsScience
Author Correction: Common and rare variant associations with clonal haematopoiesis phenotypes
Michael D. Kessler, Amy Damask, Sean O’Keeffe, Nilanjana Banerjee et autres
0 citationsNature
Author Correction: A deep catalogue of protein-coding variation in 983,578 individuals
Kathie Sun, Xiaodong Bai, Siying Chen, Suying Bao et autres
0 citationsNature
Computationally efficient meta-analysis of gene-based tests using summary statistics in large-scale genetic studies
Tyler Joseph, Joelle Mbatchou, Arkopravo Ghosh, Anthony Marcketta et autres
2 citationsmedRxiv
Joint testing of rare variant burden scores using non-negative least squares
Andrey Ziyatdinov, Joelle Mbatchou, Anthony Marcketta, Joshua Backman et autres
13 citationsThe American Journal of Human Genetics
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