Litcius/Paper detail

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

Sean J. Jurgens, Seung Hoan Choi, Valerie N. Morrill, Mark Chaffin, James P. Pirruccello, Jennifer L. Halford, Lu‐Chen Weng, Victor Nauffal, Carolina Roselli, Amelia Weber Hall, Matthew T. Oetjens, Braxton Lagerman, David P. vanMaanen, Gonçalo R. Abecasis, Xiaodong Bai, Suganthi Balasubramanian, Aris Baras, Christina Beechert, Boris Boutkov, Michael Cantor, Giovanni Coppola, Tanima De, Andrew Deubler, Aris N. Economides, Gisu Eom, Manuel A. R. Ferreira, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, Lukas Habegger, Alicia Hawes, Marcus B. Jones, Katia Karalis, Shareef Khalid, Olga Krasheninina, Rouel Lanche, Michael Lattari, Dadong Li, Alexander Lopez, Luca A. Lotta, Kia Manoochehri, Adam J. Mansfield, Evan K. Maxwell, Jason Mighty, Lyndon J. Mitnaul, Mona Nafde, Jonas B. Nielsen, Sean O’Keeffe, Max Orelus, John D. Overton, Maria Sotiropoulos Padilla, Razvan Panea, Tommy Polanco, Manasi Pradhan, Ayesha Rasool, Jeffrey G. Reid, William Salerno, Thomas D. Schleicher, Alan R. Shuldiner, Katherine Siminovitch, Jeffrey Staples, Ricardo H. Ulloa, Niek Verweij, Louis Widom, Sarah E. Wolf, Krishna G. Aragam, Kathryn L. Lunetta, Christopher M. Haggerty, Steven A. Lubitz, Patrick T. Ellinor

2022Nature Genetics173 citationsDOIOpen Access PDF

Topics & Concepts

BiobankBiologyExome sequencingType 2 diabetesGeneticsExomeMendelian inheritanceDiseaseGenome-wide association studyGenetic architectureGenetic associationHuman geneticsBioinformaticsGeneQuantitative trait locusMedicineSingle-nucleotide polymorphismMutationDiabetes mellitusInternal medicineGenotypeEndocrinologyGenetic Associations and EpidemiologyGenomics and Rare DiseasesUbiquitin and proteasome pathways