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Method

Detection of long repeat expansions from PCR-free whole-genome sequence data

  • Egor Dolzhenko
  • Joke J.F.A. van Vugt
  • Richard J. Shaw
  • Mitchell A. Bekritsky
  • Marka van Blitterswijk
  • Giuseppe Narzisi Subramanian S. Ajay Vani Rajan Bryan R. Lajoie Nathan H. Johnson Zoya Kingsbury Sean J. Humphray Raymond D. Schellevis William J. Brands Matt Baker Rosa Rademakers Maarten Kooyman Gijs H.P. Tazelaar Michael A. van Es Russell McLaughlin William Sproviero Aleksey Shatunov Ashley Jones Ahmad Al Khleifat Alan Pittman Sarah Morgan Orla Hardiman Ammar Al-Chalabi Chris Shaw Bradley Smith Edmund J. Neo Karen Morrison Pamela J. Shaw Catherine Reeves Lara Winterkorn Nancy S. Wexler David E. Housman Christopher W. Ng Alina L. Li Ryan J. Taft
  • ... [+35 authors] ...,
  • Leonard H. van den Berg
  • David R. Bentley
  • Jan H. Veldink
  • Michael A. Eberle
  • First Published September 8, 2017
Resource

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

  • Valerie A. Schneider
  • Tina Graves-Lindsay
  • Kerstin Howe
  • Nathan Bouk
  • Hsiu-Chuan Chen
  • Paul A. Kitts Terence D. Murphy Kim D. Pruitt Françoise Thibaud-Nissen Derek Albracht Robert S. Fulton Milinn Kremitzki Vincent Magrini Chris Markovic Sean McGrath Karyn Meltz Steinberg Kate Auger William Chow Joanna Collins Glenn Harden Timothy Hubbard Sarah Pelan Jared T. Simpson Glen Threadgold James Torrance Jonathan M. Wood Laura Clarke Sergey Koren Matthew Boitano Paul Peluso Heng Li Chen-Shan Chin Adam M. Phillippy Richard Durbin
  • ... [+29 authors] ...,
  • Richard K. Wilson
  • Paul Flicek
  • Evan E. Eichler
  • Deanna M. Church
  • First Published April 10, 2017
Method

Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomes

  • Dirk D. Dolle
  • Zhicheng Liu
  • Matthew Cotten
  • Jared T. Simpson
  • Zamin Iqbal
  • Richard Durbin
  • Shane A. McCarthy
  • Thomas M. Keane
  • First Published December 16, 2016
Resource

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

  • Michael A. Eberle
  • Epameinondas Fritzilas
  • Peter Krusche
  • Morten Källberg
  • Benjamin L. Moore
  • Mitchell A. Bekritsky Zamin Iqbal Han-Yu Chuang Sean J. Humphray Aaron L. Halpern
  • ... [+5 authors] ...,
  • Semyon Kruglyak
  • Elliott H. Margulies
  • Gil McVean
  • David R. Bentley
  • First Published November 30, 2016
Resource

Assemblathon 1: A competitive assessment of de novo short read assembly methods

  • Dent Earl
  • Keith Bradnam
  • John St. John
  • Aaron Darling
  • Dawei Lin
  • Joseph Fass Hung On Ken Yu Vince Buffalo Daniel R. Zerbino Mark Diekhans Ngan Nguyen Pramila Nuwantha Ariyaratne Wing-Kin Sung Zemin Ning Matthias Haimel Jared T. Simpson Nuno A. Fonseca İnanç Birol T. Roderick Docking Isaac Y. Ho Daniel S. Rokhsar Rayan Chikhi Dominique Lavenier Guillaume Chapuis Delphine Naquin Nicolas Maillet Michael C. Schatz David R. Kelley Adam M. Phillippy Sergey Koren Shiaw-Pyng Yang Wei Wu Wen-Chi Chou Anuj Srivastava Timothy I. Shaw J. Graham Ruby Peter Skewes-Cox Miguel Betegon Michelle T. Dimon Victor Solovyev Igor Seledtsov Petr Kosarev Denis Vorobyev Ricardo Ramirez-Gonzalez Richard Leggett Dan MacLean Fangfang Xia Ruibang Luo Zhenyu Li Yinlong Xie Binghang Liu Sante Gnerre Iain MacCallum Dariusz Przybylski Filipe J. Ribeiro Shuangye Yin Ted Sharpe Giles Hall Paul J. Kersey Richard Durbin Shaun D. Jackman Jarrod A. Chapman Xiaoqiu Huang Joseph L. DeRisi Mario Caccamo Yingrui Li David B. Jaffe
  • ... [+62 authors] ...,
  • Richard E. Green
  • David Haussler
  • Ian Korf
  • Benedict Paten
  • First Published September 16, 2011
Method

Revealing the genetic structure of a trait by sequencing a population under selection

  • Leopold Parts
  • Francisco A. Cubillos
  • Jonas Warringer
  • Kanika Jain
  • Francisco Salinas
  • Suzannah J. Bumpstead Mikael Molin Amin Zia Jared T. Simpson Michael A. Quail
  • ... [+5 authors] ...,
  • Alan Moses
  • Edward J. Louis
  • Richard Durbin
  • Gianni Liti
  • First Published March 21, 2011
Resource

ABySS: A parallel assembler for short read sequence data

  • Jared T. Simpson
  • Kim Wong
  • Shaun D. Jackman
  • Jacqueline E. Schein
  • Steven J.M. Jones
  • İnanç Birol
  • First Published February 27, 2009
LETTER

Genomic regions exhibiting positive selection identified from dense genotype data

  • Christopher S. Carlson
  • Daryl J. Thomas
  • Michael A. Eberle
  • Johanna E. Swanson
  • Robert J. Livingston
  • Mark J. Rieder
  • Deborah A. Nickerson
  • First Published October 26, 2005
ARTICLE

Canis familiaris" > Extensive and breed-specific linkage disequilibrium in Canis familiaris

  • Nathan B. Sutter
  • Michael A. Eberle
  • Heidi G. Parker
  • Barbara J. Pullar
  • Ewen F. Kirkness
  • Leonid Kruglyak
  • Elaine A. Ostrander
  • First Published November 15, 2004
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