V
Vamsi K. Mootha
Researcher at Broad Institute
Publications - 243
Citations - 90559
Vamsi K. Mootha is an academic researcher from Broad Institute. The author has contributed to research in topics: Mitochondrion & Mitochondrial DNA. The author has an hindex of 85, co-authored 227 publications receiving 73860 citations. Previous affiliations of Vamsi K. Mootha include Harvard University & Beth Israel Deaconess Medical Center.
Papers
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Journal ArticleDOI
Human genetic analyses of organelles highlight the nucleus in age-related trait heritability
Rahul Gupta,Rahul Gupta,Rahul Gupta,Konrad J. Karczewski,Konrad J. Karczewski,Daniel P. Howrigan,Daniel P. Howrigan,Benjamin M. Neale,Benjamin M. Neale,Vamsi K. Mootha,Vamsi K. Mootha +10 more
TL;DR: Gupta et al. as discussed by the authors found that inherited variants in or near genes associated with the nucleus were consistently linked to age-related disease risks, including heart disease, diabetes, and neurodegenerative disease.
Proceedings Article
Building an application framework for integrative genomics
TL;DR: The architecture is intended to provide an extensible platform for developing web based bioinformatics applications and to offer a flexible and end-user-extensible software environment to explore and integrate disparate biological data sources.
Posted ContentDOI
Mitochondrial DNA variation across 56,434 individuals in gnomAD
Kristen M. Laricchia,Kristen M. Laricchia,Nicole J. Lake,Nicholas A. Watts,Nicholas A. Watts,Megan Shand,Andrea Haessly,Laura D. Gauthier,David Benjamin,Eric Banks,Jose Soto,Kiran V. Garimella,James Emery,Heidi L. Rehm,Heidi L. Rehm,Daniel G. MacArthur,Daniel G. MacArthur,Grace Tiao,Grace Tiao,Monkol Lek,Vamsi K. Mootha,Vamsi K. Mootha,Sarah E. Calvo,Sarah E. Calvo +23 more
TL;DR: In this paper, the authors present a pipeline to call mtDNA variants that addresses three technical challenges: (i) detecting homoplasmic and heterplasmic variants, present respectively in all or a fraction of mtDNA molecules, (ii) circular mtDNA genome, and (iii) misalignment of nuclear sequences of mitochondrial origin (NUMTs).
Journal ArticleDOI
Evolutionary divergence reveals the molecular basis of EMRE dependence of the human MCU.
Melissa J.S. MacEwen,Andrew L. Markhard,Mert Bozbeyoglu,Forrest Bradford,Olga Goldberger,Vamsi K. Mootha,Vamsi K. Mootha,Yasemin Sancak +7 more
TL;DR: This work identifies a new domain in mitochondrial calcium uniporter that determines its dependence on its binding partner EMRE, and calls this region in human MCU the EMRE dependence domain (EDD).
Journal ArticleDOI
Impaired hypoxic pulmonary vasoconstriction in a mouse model of Leigh syndrome
Grigorij Schleifer,Eizo Marutani,Michele Ferrari,Rohit Sharma,Owen S. Skinner,Olga Goldberger,Robert M. H. Grange,Kathryn M. Peneyra,Rajeev Malhotra,Martin Wepler,Fumito Ichinose,Daniel Bloch,Vamsi K. Mootha,Warren M. Zapol +13 more
TL;DR: The results of this study show that, when breathing air, mice with a congenital Ndufs4 deficiency or chemically inhibited CI function have impaired HPV, raising the possibility that patients with inborn errors of mitochondrial function may also have defects in HPV.