A
Aaron R. Quinlan
Researcher at University of Utah
Publications - 154
Citations - 36106
Aaron R. Quinlan is an academic researcher from University of Utah. The author has contributed to research in topics: Genome & Gene. The author has an hindex of 44, co-authored 128 publications receiving 27340 citations. Previous affiliations of Aaron R. Quinlan include University of Virginia Health System & Washington University in St. Louis.
Papers
More filters
Journal ArticleDOI
BEDTools: a flexible suite of utilities for comparing genomic features
Aaron R. Quinlan,Ira M. Hall +1 more
TL;DR: A new software suite for the comparison, manipulation and annotation of genomic features in Browser Extensible Data (BED) and General Feature Format (GFF) format, which allows the user to compare large datasets (e.g. next-generation sequencing data) with both public and custom genome annotation tracks.
Journal ArticleDOI
BEDTools: The Swiss‐Army Tool for Genome Feature Analysis
TL;DR: The BEDTools toolkit as discussed by the authors is a toolkit for the exploration of high-throughput genomics datasets, which can be combined to create bespoke pipelines addressing complex questions.
Journal ArticleDOI
Nanopore sequencing and assembly of a human genome with ultra-long reads
Miten Jain,Sergey Koren,Karen H. Miga,Josh Quick,Arthur C Rand,Thomas A Sasani,John R. Tyson,Andrew D Beggs,Alexander T. Dilthey,Ian T. Fiddes,Sunir Malla,Hannah Marriott,Tom Nieto,Justin O'Grady,Hugh E. Olsen,Brent S. Pedersen,Arang Rhie,Hollian Richardson,Aaron R. Quinlan,Terrance P. Snutch,Louise Tee,Benedict Paten,Adam M. Phillippy,Jared T. Simpson,Jared T. Simpson,Nicholas J. Loman,Matthew Loose +26 more
TL;DR: Ultra-long reads enabled assembly and phasing of the 4-Mb major histocompatibility complex (MHC) locus in its entirety, measurement of telomere repeat length, and closure of gaps in the reference human genome assembly GRCh38.
Journal ArticleDOI
LUMPY: a probabilistic framework for structural variant discovery
TL;DR: It is shown that LUMPY yields improved sensitivity, especially when SV signal is reduced owing to either low coverage data or low intra-sample variant allele frequency, as well as a set of 4,564 validated breakpoints from the NA12878 human genome.
Journal ArticleDOI
Mapping copy number variation by population-scale genome sequencing
Ryan E. Mills,Klaudia Walter,Chip Stewart,Robert E. Handsaker,Ken Chen,Can Alkan,Alexej Abyzov,Seungtai Yoon,Kai Ye,R. Keira Cheetham,Asif T. Chinwalla,Donald F. Conrad,Yutao Fu,Fabian Grubert,Iman Hajirasouliha,Fereydoun Hormozdiari,Lilia M. Iakoucheva,Zamin Iqbal,Shuli Kang,Jeffrey M. Kidd,Miriam K. Konkel,Joshua M. Korn,Ekta Khurana,Deniz Kural,Hugo Y. K. Lam,Jing Leng,Ruiqiang Li,Yingrui Li,Chang-Yun Lin,Ruibang Luo,Xinmeng Jasmine Mu,James Nemesh,Heather E. Peckham,Tobias Rausch,Aylwyn Scally,Xinghua Shi,Michael Strömberg,Adrian M. Sütz,Alexander E. Urban,Jerilyn A. Walker,Jiantao Wu,Yujun Zhang,Zhengdong D. Zhang,Mark A. Batzer,Li Ding,Gabor T. Marth,Gil McVean,Jonathan Sebat,Michael Snyder,Jun Wang,Jun Wang,Kenny Ye,Evan E. Eichler,Mark Gerstein,Matthew E. Hurles,Charles Lee,Steven A. McCarroll,Steven A. McCarroll,Jan O. Korbel,Francis S. Collins,D. L. Altshuler,Richard Durbin,Gonçalo R. Abecasis,David R. Bentley,Aravinda Chakravarti,Andrew G. Clark,F. M. De La Vega,Peter Donnelly,Michael Egholm,Paul Flicek,S. Gabriel,Richard A. Gibbs,Bartha Maria Knoppers,Eric S. Lander,Hans Lehrach,Elaine R. Mardis,Gilean McVean,Deborah A. Nickerson,Leena Peltonen,Alan J. Schafer,Stephen T. Sherry,Richard K. Wilson,David Rio Deiros,Michael L. Metzker,Donna Muzny,Jeffrey S. Reid,D Wheeler,Jingxiang Li,Min Jian,Guoqing Li,Huiqing Liang,Geng Tian,Bo Wang,Wei Wang,Huanming Yang,Xiuqing Zhang,Huisong Zheng,Lauren Ambrogio,Toby Bloom,Kristian Cibulskis,T. J. Fennell,David B. Jaffe,Erica Shefler,Carrie Sougnez,Niall Anthony Gormley,Sean Humphray,Zoya Kingsbury,P. Koko-Gonzales,Jennifer Stone,Kevin McKernan,Gianna Costa,Jeffrey K. Ichikawa,Cheng-Sheng Lee,Ralf Sudbrak,Tatjana Borodina,Andreas Dahl,Alexey N. Davydov,P. Marquardt,Florian Mertes,Wilfried Nietfeld,Philip Rosenstiel,Stuart L. Schreiber,Alexey Soldatov,Bernd Timmermann,M. Tolzmann,Jason P. Affourtit,D. Ashworth,S. Attiya,M. Bachorski,E. Buglione,A. Burke,A. Caprio,Christopher Celone,S. Clark,D. Conners,B. Desany,L. Gu,L. Guccione,K. Kao,A. Kebbel,J. Knowlton,M. Labrecque,L. McDade,Craig Elder Mealmaker,M. Minderman,A. Nawrocki,Faheem Niazi,K. Pareja,Ramenani Ravi K,D. Riches,W. Song,Cynthia L. Turcotte,S. Wang,David J. Dooling,Linnea Fulton,Robert S. Fulton,George M. Weinstock,James O. Burton,David M. Carter,Carol Churcher,Alison J. Coffey,Anthony J. Cox,A. Palotie,Michael A. Quail,Tara Skelly,Jim Stalker,Harold Swerdlow,Dan Turner,A. De Witte,S. Giles,Matthew N. Bainbridge,Danny Challis,Aniko Sabo,Fuli Yu,Jin Yu,Xiaodong Fang,Xiaosen Guo,Shuaishuai Tai,Honglong Wu,Xiaole Zheng,Yan Zhou,E. P. Garrison,Weichun Huang,Amit Indap,Wan-Ping Lee,Wen Fung Leong,Aaron R. Quinlan,Alistair Ward,Mark J. Daly,Mark A. DePristo,A. D. Ball,Eric Banks,Brian L. Browning,Kiran V. Garimella,Sharon R. Grossman,Megan Hanna,Christopher Hartl,Andrew Kernytsky,J. M. Korn,Heng Li,Jared Maguire,Aaron McKenna,James Nemesh,Anthony A. Philippakis,Ryan Poplin,Amanda J. Price,Manual Rivas,Pardis C. Sabeti,Stephen F. Schaffner,Ilya Shlyakhter,David Neil Cooper,Edward V. Ball,Matthew Mort,Adam Phillips,Peter D. Stenson,Vladimir Makarov,Carlos Bustamante,Adam R. Boyko,Jeremiah D. Degenhardt,Simon Gravel,Ryan N. Gutenkunst,Mark Kaganovich,Alon Keinan,Philippe Lacroute,Xin Ma,Alex Reynolds,Laura Clarke,Fiona Cunningham,Javier Herrero,S. Keenen,Eugene Kulesha,Rasko Leinonen,William M. McLaren,Rajesh Radhakrishnan,Raffaella Smith,Vadim Zalunin,Xiangqun Zheng-Bradley,Adrian M. Stütz,Michael Bauer,Tony Cox,Michael A. Eberle,Terena James,Scott Kahn,Lucinda Murray,Fiona Hyland,Jonathan M. Manning,Stephen F. McLaughlin,Onur Sakarya,Yongming A. Sun,Eric F. Tsung,M. Albrecht,Vyacheslav Amstislavskiy,Ralf Herwig,Dmitri Parkhomchuk,Richa Agarwala,H. M. Khouri,Aleksandr Morgulis,Justin Paschall,Lon Phan,Kirill Rotmistrovsky,Robert Sanders,Martin Shumway,Chunlin Xiao,Adam Auton,Gerton Lunter,Jonathan Marchini,Loukas Moutsianas,Simon Myers,Afidalina Tumian,Jo Knight,Roger Winer,David Craig,Stephen M. Beckstrom-Sternberg,Alexis Christoforides,Ahmet Kurdoglu,John V. Pearson,Shripad Sinari,Waibhav Tembe,David Haussler,Angie S. Hinrichs,Sol Katzman,Andrew D. Kern,Robert M. Kuhn,Molly Przeworski,Ryan D. Hernandez,Bryan Howie,Joanna L. Kelley,S. C. Melton,Paige Anderson,Thomas W. Blackwell,Wei Chen,William O.C.M. Cookson,Jun Ding,Hyun Min Kang,Mark Lathrop,Liming Liang,Miriam F. Moffatt,Paul Scheet,C Sidore,Xiaowei Zhan,Sebastian Zöllner,Philip Awadalla,Ferran Casals,Youssef Idaghdour,Jon Keebler,Eric A. Stone,Martine Zilversmit,Lynn B. Jorde,Jinchuan Xing,Gozde Aksay,Suleyman Cenk Sahinalp,Peter H. Sudmant,Daniel C. Koboldt,Michael D. McLellan,John W. Wallis,Michael C. Wendl,Qunyuan Zhang,Cornelis A. Albers,Qasim Ayub,Senduran Balasubramaniam,Jeffrey C. Barrett,Yuan Chen,Petr Danecek,Emmanouil T. Dermitzakis,Min Hu,Ni Huang,Han-Jun Jin,Luke Jostins,Thomas M. Keane,Si Quang Le,Susan Lindsay,Quan Long,Daniel G. MacArthur,Stephen B. Montgomery,Leopold Parts,Chris Tyler-Smith,Shankar Balasubramanian,Robert D. Bjornson,Jiang Du,Lukas Habegger,Rajini R Haraksingh,Justin Jee,H. Y. Lam,J. Jeng,Zhaolei Zhang,E. Bank,S. Yoon,J. Kidd,C. Coafra,Huyen Dinh,Christie Kovar,Sandra J. Lee,Lynne V. Nazareth,Jane Wilkinson,H. M. Khouri,Carol Scott,Neda Gharani,Jane Kaye,Alastair Kent,T. Li,Amy L. McGuire,Pilar N. Ossorio,Charles N. Rotimi,Yeyang Su,Lorraine Toji,Lisa D Brooks,Adam Felsenfeld,Jean E. McEwen,Assya Abdallah,C. R. Juenger,N. C. Clemm,Audrey Duncanson,Eric D. Green,Mark S. Guyer,Jessica L. Peterson +374 more
TL;DR: A map of unbalanced SVs is constructed based on whole genome DNA sequencing data from 185 human genomes, integrating evidence from complementary SV discovery approaches with extensive experimental validations, and serves as a resource for sequencing-based association studies.