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Resource

Maftools: efficient and comprehensive analysis of somatic variants in cancer

Anand Mayakonda
De-Chen Lin
Yassen Assenov
Christoph Plass
H. Phillip Koeffler

First Published October 19, 2018

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

A DNA methylation fingerprint of 1628 human samples

Agustin F. Fernandez
Yassen Assenov
Jose Ignacio Martin-Subero
Balazs Balint
Reiner Siebert
Hiroaki Taniguchi Hiroyuki Yamamoto Manuel Hidalgo Aik-Choon Tan Oliver Galm Isidre Ferrer Montse Sanchez-Cespedes Alberto Villanueva Javier Carmona Jose V. Sanchez-Mut Maria Berdasco Victor Moreno Gabriel Capella David Monk Esteban Ballestar Santiago Ropero Ramon Martinez Marta Sanchez-Carbayo Felipe Prosper Xabier Agirre Mario F. Fraga Osvaldo Graña Luis Perez-Jurado Jaume Mora Susana Puig Jaime Prat Lina Badimon Annibale A. Puca Stephen J. Meltzer
... [+29 authors] ...,
Thomas Lengauer
John Bridgewater
Christoph Bock
Manel Esteller

First Published May 25, 2011