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High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation

  • Jonas A. Gustafson
  • Sophia B. Gibson
  • Nikhita Damaraju
  • Miranda P.G. Zalusky
  • Kendra Hoekzema
  • David Twesigomwe Lei Yang Anthony A. Snead Phillip A. Richmond Wouter De Coster Nathan D. Olson Andrea Guarracino Qiuhui Li Angela L. Miller Joy Goffena Zachary B. Anderson Sophie H.R. Storz Sydney A. Ward Maisha Sinha Claudia Gonzaga-Jauregui Wayne E. Clarke Anna O. Basile André Corvelo Catherine Reeves Adrienne Helland Rajeeva Lochan Musunuri Mahler Revsine Karynne E. Patterson Cate R. Paschal Christina Zakarian Sara Goodwin Tanner D. Jensen Esther Robb William Richard McCombie Fritz J. Sedlazeck Justin M. Zook Stephen B. Montgomery Erik Garrison Mikhail Kolmogorov Michael C. Schatz Richard N. McLaughlin Harriet Dashnow Michael C. Zody
  • ... [+38 authors] ...,
  • Matt Loose
  • Miten Jain
  • Evan E. Eichler
  • Danny E. Miller
  • First Published October 2, 2024
Resource

Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR

  • Wouter De Coster
  • Ida Höijer
  • Inge Bruggeman
  • Svenn D'Hert
  • Malin Melin
  • Adam Ameur
  • Rosa Rademakers
  • First Published August 15, 2024
Resource

A chromosome-level assembly of the Atlantic herring genome—detection of a supergene and other signals of selection

  • Mats E. Pettersson
  • Christina M. Rochus
  • Fan Han
  • Junfeng Chen
  • Jason Hill
  • Ola Wallerman Guangyi Fan Xiaoning Hong Qiwu Xu He Zhang Shanshan Liu Xin Liu Leanne Haggerty Toby Hunt Fergal J. Martin
  • ... [+10 authors] ...,
  • Paul Flicek
  • Ignas Bunikis
  • Arild Folkvord
  • Leif Andersson
  • First Published October 24, 2019
Resource

Discovery of high-confidence human protein-coding genes and exons by whole-genome PhyloCSF helps elucidate 118 GWAS loci

  • Jonathan M. Mudge
  • Irwin Jungreis
  • Toby Hunt
  • Jose Manuel Gonzalez
  • James C. Wright
  • Mike Kay Claire Davidson Stephen Fitzgerald Ruth Seal Susan Tweedie Liang He Robert M. Waterhouse Yue Li
  • ... [+8 authors] ...,
  • Elspeth Bruford
  • Jyoti S. Choudhary
  • Adam Frankish
  • Manolis Kellis
  • First Published September 19, 2019
Resource

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

  • Wouter De Coster
  • Peter De Rijk
  • Arne De Roeck
  • Tim De Pooter
  • Svenn D'Hert
  • Mojca Strazisar
  • Kristel Sleegers
  • Christine Van Broeckhoven
  • First Published June 11, 2019
Resource

The pig X and Y Chromosomes: structure, sequence, and evolution

  • Benjamin M. Skinner
  • Carole A. Sargent
  • Carol Churcher
  • Toby Hunt
  • Javier Herrero
  • Jane E. Loveland Matt Dunn Sandra Louzada Beiyuan Fu William Chow James Gilbert Siobhan Austin-Guest Kathryn Beal Denise Carvalho-Silva William Cheng Daria Gordon Darren Grafham Matt Hardy Jo Harley Heidi Hauser Philip Howden Kerstin Howe Kim Lachani Peter J.I. Ellis Daniel Kelly Giselle Kerry James Kerwin Bee Ling Ng Glen Threadgold Thomas Wileman Jonathan M.D. Wood
  • ... [+26 authors] ...,
  • Fengtang Yang
  • Jen Harrow
  • Nabeel A. Affara
  • Chris Tyler-Smith
  • First Published November 11, 2015
Resource

GENCODE: The reference human genome annotation for The ENCODE Project

  • Jennifer Harrow
  • Adam Frankish
  • Jose M. Gonzalez
  • Electra Tapanari
  • Mark Diekhans
  • Felix Kokocinski Bronwen L. Aken Daniel Barrell Amonida Zadissa Stephen Searle If Barnes Alexandra Bignell Veronika Boychenko Toby Hunt Mike Kay Gaurab Mukherjee Jeena Rajan Gloria Despacio-Reyes Gary Saunders Charles Steward Rachel Harte Michael Lin Cédric Howald Andrea Tanzer Thomas Derrien Jacqueline Chrast Nathalie Walters Suganthi Balasubramanian Baikang Pei Michael Tress Jose Manuel Rodriguez Iakes Ezkurdia Jeltje van Baren Michael Brent David Haussler Manolis Kellis Alfonso Valencia
  • ... [+32 authors] ...,
  • Alexandre Reymond
  • Mark Gerstein
  • Roderic Guigó
  • Tim J. Hubbard
  • First Published September 5, 2012
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