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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

Resource

Single haplotype assembly of the human genome from a hydatidiform mole

Karyn Meltz Steinberg
Valerie A. Schneider
Tina A. Graves-Lindsay
Robert S. Fulton
Richa Agarwala
John Huddleston Sergey A. Shiryev Aleksandr Morgulis Urvashi Surti
... [+4 authors] ...,
Wesley C. Warren
Deanna M. Church
Evan E. Eichler
Richard K. Wilson

First Published November 4, 2014

Resource

Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline

Nicholas Stong
Zhong Deng
Ravi Gupta
Sufen Hu
Shiela Paul
Amber K. Weiner Evan E. Eichler Tina Graves Catrina C. Fronick Laura Courtney
... [+5 authors] ...,
Richard K. Wilson
Paul M. Lieberman
Ramana V. Davuluri
Harold Riethman

First Published March 27, 2014

Resource

MuSiC: Identifying mutational significance in cancer genomes

Nathan D. Dees
Qunyuan Zhang
Cyriac Kandoth
Michael C. Wendl
William Schierding
Daniel C. Koboldt Thomas B. Mooney Matthew B. Callaway
... [+3 authors] ...,
David Dooling
Elaine R. Mardis
Richard K. Wilson
Li Ding

First Published July 3, 2012

Resource

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

Tamim H. Shaikh
Xiaowu Gai
Juan C. Perin
Joseph T. Glessner
Hongbo Xie
Kevin Murphy Ryan O'Hara Tracy Casalunovo Laura K. Conlin Monica D'Arcy Edward C. Frackelton Elizabeth A. Geiger Chad Haldeman-Englert Marcin Imielinski Cecilia E. Kim Livija Medne Kiran Annaiah Jonathan P. Bradfield Elvira Dabaghyan Andrew Eckert Chioma C. Onyiah Svetlana Ostapenko F. George Otieno Erin Santa Julie L. Shaner Robert Skraban Ryan M. Smith Josephine Elia Elizabeth Goldmuntz Nancy B. Spinner Elaine H. Zackai Rosetta M. Chiavacci Robert Grundmeier
... [+28 authors] ...,
Eric F. Rappaport
Struan F.A. Grant
Peter S. White
Hakon Hakonarson

First Published July 10, 2009