M
Mark Chaffin
Researcher at Broad Institute
Publications - 84
Citations - 7972
Mark Chaffin is an academic researcher from Broad Institute. The author has contributed to research in topics: Genome-wide association study & Medicine. The author has an hindex of 30, co-authored 71 publications receiving 4405 citations. Previous affiliations of Mark Chaffin include Massachusetts Institute of Technology & Colby College.
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A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.
Connor A. Emdin,Mary E. Haas,Amit Khera,Krishna G. Aragam,Mark Chaffin,Derek Klarin,George Hindy,Lan Jiang,Wei-Qi Wei,QiPing Feng,Juha Karjalainen,Aki S. Havulinna,Tuomo Kiiskinen,Alexander G. Bick,Diego Ardissino,James G. Wilson,Heribert Schunkert,Ruth McPherson,Hugh Watkins,Roberto Elosua,Matthew J. Bown,Nilesh J. Samani,Usman Baber,Jeanette Erdmann,Namrata Gupta,John Danesh,Danish Saleheen,Kyong-Mi Chang,Marijana Vujkovic,B F Voight,Scott M. Damrauer,Julie Lynch,David E. Kaplan,Marina Serper,Philip S. Tsao,Josep M. Mercader,Craig L. Hanis,Mark J. Daly,Joshua C. Denny,Stacey Gabriel,Sekar Kathiresan +40 more
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Neurocognitive trajectory and proteomic signature of inherited risk for Alzheimer’s disease
Manish Paranjpe,Mark Chaffin,Sohail Zahid,Scott C. Ritchie,Jerome I. Rotter,Stephen S. Rich,Robert E. Gerszten,Xiuqing Guo,Susan R. Heckbert,Russell P. Tracy,John Danesh,Eric S. Lander,Michael Inouye,Sekar Kathiresan,Adam S. Butterworth,Amit Khera +15 more
TL;DR: The potential for a DNA-based score to identify high-risk individuals during the prolonged presymptomatic phase of Alzheimer’s disease and to enable biomarker discovery based on profiling of young individuals in the extremes of the score distribution is highlighted.
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Abstract 126: Genome Wide Association Study in the Million Veteran Program Identifies a Novel Role for Thrombosis in the Pathogenesis of Peripheral Artery Disease
Derek Klarin,Julie Lynch,Krishna G. Aragam,Tim Assimes,Kyung Min Lee,Qing Shao,Mark Chaffin,Pradeep Natarajan,Shipra Arya,Aeron Small,Yan V. Sun,Danish Saleheen,Jennifer Lee,Donald R. Miller,Peter D. Reaven,Scott L. DuVall,William E. Boden,J. Michael Gaziano,John Concato,Sekar Kathiresan,Daniel J. Rader,Kelly Cho,Peter W.F. Wilson,Kyong-Mi Chang,Christopher J. O'Donnell,P.S. Tsao,Scott M. Damrauer,VA Million Veteran Program +27 more
Posted ContentDOI
Adjusting for Common Variant Polygenic Scores Improves Yield in Rare Variant Association Analyses
Sean J. Jurgens,Sean J. Jurgens,James P. Pirruccello,Seung Hoan Choi,Valerie N. Morrill,Mark Chaffin,Steven A. Lubitz,Steven A. Lubitz,Kathryn L. Lunetta,Patrick T. Ellinor,Patrick T. Ellinor +10 more
TL;DR: The authors showed that adjusting for common variant polygenic scores improves the yield in gene-based rare variant analyses across 65 quantitative traits in the UK Biobank (up to 20% increase at α=2.6x10-6).
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Single-nucleus RNA sequencing in ischemic cardiomyopathy reveals common transcriptional profile underlying end-stage heart failure.
Bridget Simonson,Mark Chaffin,Matthew C. Hill,Ondine Atwa,Yasmine Guedira,Harshit Bhasin,Amelia W. Hall,Sikander Hayat,Simon J. Baumgart,Kenneth Bedi,Kenneth B. Margulies,Carla Andrea Klattenhoff,Patrick T. Ellinor +12 more
TL;DR: In this article , the authors used single-nucleus RNA sequencing (snRNA-seq) and integrated computational analyses to profile the transcriptomes of over 99,000 human cardiac nuclei from the non-infarct region of the left ventricle of 7 ICM transplant recipients and 8 non-failing (NF) controls.