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Kiran V. Garimella
Researcher at Broad Institute
Publications - 30
Citations - 43280
Kiran V. Garimella is an academic researcher from Broad Institute. The author has contributed to research in topics: Population & Gene. The author has an hindex of 18, co-authored 24 publications receiving 35750 citations. Previous affiliations of Kiran V. Garimella include Wellcome Trust Centre for Human Genetics & University of Oxford.
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Journal ArticleDOI
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna,Matthew Hanna,Eric Banks,Andrey Sivachenko,Kristian Cibulskis,Andrew Kernytsky,Kiran V. Garimella,David Altshuler,Stacey Gabriel,Mark J. Daly,Mark A. DePristo +10 more
TL;DR: The GATK programming framework enables developers and analysts to quickly and easily write efficient and robust NGS tools, many of which have already been incorporated into large-scale sequencing projects like the 1000 Genomes Project and The Cancer Genome Atlas.
Journal ArticleDOI
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo,Eric Banks,Ryan Poplin,Kiran V. Garimella,Jared Maguire,Christopher Hartl,Anthony A. Philippakis,Anthony A. Philippakis,Anthony A. Philippakis,Guillermo del Angel,Manuel A. Rivas,Manuel A. Rivas,Matt Hanna,Aaron McKenna,Timothy Fennell,Andrew Kernytsky,Andrey Sivachenko,Kristian Cibulskis,Stacey Gabriel,David Altshuler,David Altshuler,Mark J. Daly,Mark J. Daly +22 more
TL;DR: A unified analytic framework to discover and genotype variation among multiple samples simultaneously that achieves sensitive and specific results across five sequencing technologies and three distinct, canonical experimental designs is presented.
Journal ArticleDOI
From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline
Géraldine A. Van der Auwera,Mauricio O. Carneiro,Christopher Hartl,Ryan Poplin,Guillermo del Angel,Ami Levy-Moonshine,Tadeusz Jordan,Khalid Shakir,David Roazen,Joel Thibault,Eric Banks,Kiran V. Garimella,David Altshuler,Stacey Gabriel,Mark A. DePristo +14 more
TL;DR: This unit describes how to use BWA and the Genome Analysis Toolkit to map genome sequencing data to a reference and produce high‐quality variant calls that can be used in downstream analyses.
Journal ArticleDOI
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Benjamin M. Neale,Yan Kou,Li Liu,Avi Ma'ayan,Kaitlin E. Samocha,Kaitlin E. Samocha,Aniko Sabo,Chiao-Feng Lin,Christine Stevens,Li-San Wang,Vladimir Makarov,Paz Polak,Paz Polak,Seungtai Yoon,Jared Maguire,Emily L. Crawford,Nicholas G. Campbell,Evan T. Geller,Otto Valladares,Chad M. Schafer,Han Liu,Tuo Zhao,Guiqing Cai,Jayon Lihm,Ruth Dannenfelser,Omar Jabado,Zuleyma Peralta,Uma Nagaswamy,Donna M. Muzny,Jeffrey G. Reid,Irene Newsham,Yuanqing Wu,Lora Lewis,Yi Han,Benjamin F. Voight,Benjamin F. Voight,Elaine T. Lim,Elaine T. Lim,Elizabeth J. Rossin,Elizabeth J. Rossin,Andrew Kirby,Andrew Kirby,Jason Flannick,Menachem Fromer,Menachem Fromer,Khalid Shakir,Timothy Fennell,Kiran V. Garimella,Eric Banks,Ryan Poplin,Stacey Gabriel,Mark A. DePristo,Jack R. Wimbish,Braden E. Boone,Shawn Levy,Catalina Betancur,Shamil R. Sunyaev,Shamil R. Sunyaev,Eric Boerwinkle,Eric Boerwinkle,Joseph D. Buxbaum,Edwin H. Cook,Bernie Devlin,Richard A. Gibbs,Kathryn Roeder,Gerard D. Schellenberg,James S. Sutcliffe,Mark J. Daly,Mark J. Daly +68 more
TL;DR: Results from de novo events and a large parallel case–control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors and support polygenic models in which spontaneous coding mutations in any of a large number of genes increases risk by 5- to 20-fold.
Journal ArticleDOI
A polygenic burden of rare disruptive mutations in schizophrenia
Shaun Purcell,Jennifer L. Moran,Menachem Fromer,Douglas M. Ruderfer,Nadia Solovieff,Panos Roussos,Colm O'Dushlaine,Kimberly Chambert,Sarah E. Bergen,Anna K. Kähler,Laramie E. Duncan,Eli A. Stahl,Giulio Genovese,Esperanza Fernández,Mark O. Collins,Noboru H. Komiyama,Jyoti S. Choudhary,Patrik K. E. Magnusson,Eric Banks,Khalid Shakir,Kiran V. Garimella,Timothy Fennell,Mark A. DePristo,Seth G. N. Grant,Stephen J. Haggarty,Stacey Gabriel,Edward M. Scolnick,Eric S. Lander,Christina M. Hultman,Patrick F. Sullivan,Steven A. McCarroll,Pamela Sklar +31 more
TL;DR: In this article, the exome sequences of 2,536 schizophrenia cases and 2,543 controls were analyzed and the authors demonstrated a polygenic burden primarily arising from rare (less than 1 in 10,000), disruptive mutations distributed across many genes.