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Rare coding variant analysis for human diseases across biobanks and ancestries

Sean J. Jurgens, Xin Wang, Seung Hoan Choi, Lu‐Chen Weng, Satoshi Koyama, James P. Pirruccello, Trang Thi Huyen Nguyen, Patrick Smadbeck, Dongkeun Jang, Mark Chaffin, Roddy Walsh, Carolina Roselli, Amanda L. Elliott, Leonoor F. J. M. Wijdeveld, Kiran J. Biddinger, Shinwan Kany, Joel Rämö, Pradeep Natarajan, Krishna G. Aragam, Jason Flannick, Noël P. Burtt, Connie R. Bezzina, Steven A. Lubitz, Kathryn L. Lunetta, Patrick T. Ellinor

2024Nature Genetics57 citationsDOIOpen Access PDF

Topics & Concepts

BiobankBiologyPhenomeGeneticsHuman geneticsDiseaseGenetic associationGenetic genealogyComputational biologyGeneEvolutionary biologyPhenotypeGenotypeSingle-nucleotide polymorphismPopulationMedicineEnvironmental healthPathologyGenetic Associations and EpidemiologyGenomics and Rare DiseasesEpigenetics and DNA Methylation
Rare coding variant analysis for human diseases across biobanks and ancestries | Litcius