Search | Genome Research

Resource

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

Research

TBC1D3 gene family in humans" > Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans

Xavi Guitart
David Porubsky
DongAhn Yoo
Max L. Dougherty
Philip C. Dishuck
Katherine M. Munson Alexandra P. Lewis Kendra Hoekzema
... [+3 authors] ...,
Jordan Knuth
Stephen Chang
Tomi Pastinen
Evan E. Eichler

First Published August 6, 2024

Research

Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall

William T. Harvey
Peter Ebert
Jana Ebler
Peter A. Audano
Katherine M. Munson
Kendra Hoekzema David Porubsky
... [+2 authors] ...,
Christine R. Beck
Tobias Marschall
Kiran Garimella
Evan E. Eichler

First Published December 7, 2023

Research

Gaps and complex structurally variant loci in phased genome assemblies

David Porubsky
Mitchell R. Vollger
William T. Harvey
Allison N. Rozanski
Peter Ebert
Glenn Hickey Patrick Hasenfeld Ashley D. Sanders Catherine Stober Jan O. Korbel Benedict Paten Tobias Marschall Evan E. Eichler Haley J. Abel Lucinda L. Antonacci-Fulton Mobin Asri Gunjan Baid Carl A. Baker Anastasiya Belyaeva Konstantinos Billis Guillaume Bourque Silvia Buonaiuto Andrew Carroll Mark J.P. Chaisson Pi-Chuan Chang Xian H. Chang Haoyu Cheng Justin Chu Sarah Cody Vincenza Colonna Daniel E. Cook Robert M. Cook-Deegan Omar E. Cornejo Mark Diekhans Daniel Doerr Peter Ebert Jana Ebler Evan E. Eichler Jordan M. Eizenga Susan Fairley Olivier Fedrigo Adam L. Felsenfeld Xiaowen Feng Christian Fischer Paul Flicek Giulio Formenti Adam Frankish Robert S. Fulton Yan Gao Shilpa Garg Erik Garrison Nanibaa’ A. Garrison Carlos Garcia Giron Richard E. Green Cristian Groza Andrea Guarracino Leanne Haggerty Ira M. Hall William T. Harvey Marina Haukness David Haussler Simon Heumos Glenn Hickey Kendra Hoekzema Thibaut Hourlier Kerstin Howe Miten Jain Erich D. Jarvis Hanlee P. Ji Eimear E. Kenny Barbara A. Koenig Alexey Kolesnikov Jan O. Korbel Jennifer Kordosky Sergey Koren HoJoon Lee Alexandra P. Lewis Heng Li Wen-Wei Liao Shuangjia Lu Tsung-Yu Lu Julian K. Lucas Hugo Magalhães Santiago Marco-Sola Pierre Marijon Charles Markello Tobias Marschall Fergal J. Martin Ann McCartney Jennifer McDaniel Karen H. Miga Matthew W. Mitchell Jean Monlong Jacquelyn Mountcastle Katherine M. Munson Moses Njagi Mwaniki Maria Nattestad Adam M. Novak Sergey Nurk Hugh E. Olsen Nathan D. Olson Benedict Paten Trevor Pesout Adam M. Phillippy Alice B. Popejoy David Porubsky Pjotr Prins Daniela Puiu Mikko Rautiainen Allison A. Regier Arang Rhie Samuel Sacco Ashley D. Sanders Valerie A. Schneider Baergen I. Schultz Kishwar Shafin Jonas A. Sibbesen Jouni Sirén Michael W. Smith Heidi J. Sofia Ahmad N. Abou Tayoun Françoise Thibaud-Nissen Chad Tomlinson Francesca Floriana Tricomi Flavia Villani Mitchell R. Vollger Justin Wagner Brian Walenz
... [+123 authors] ...,
Ting Wang
Jonathan M.D. Wood
Aleksey V. Zimin
Justin M. Zook

First Published May 10, 2023

Corrigendum

Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data

John Huddleston
Mark J.P. Chaisson
Karyn Meltz Steinberg
Wes Warren
Kendra Hoekzema
David Gordon Tina A. Graves-Lindsay Katherine M. Munson Zev N. Kronenberg Laura Vives Paul Peluso Matthew Boitano
... [+7 authors] ...,
Chen-Shin Chin
Jonas Korlach
Richard K. Wilson
Evan E. Eichler

First Published January 2, 2018

Research

Yeast genetic interaction screen of human genes associated with amyotrophic lateral sclerosis: identification of MAP2K5 kinase as a potential drug target

Myungjin Jo
Ah Young Chung
Nozomu Yachie
Minchul Seo
Hyejin Jeon
Youngpyo Nam Yeojin Seo Eunmi Kim Quan Zhong
... [+4 authors] ...,
Marc Vidal
Hae Chul Park
Frederick P. Roth
Kyoungho Suk

First Published June 8, 2017

Research

Discovery and genotyping of structural variation from long-read haploid genome sequence data

John Huddleston
Mark J.P. Chaisson
Karyn Meltz Steinberg
Wes Warren
Kendra Hoekzema
David Gordon Tina A. Graves-Lindsay Katherine M. Munson Zev N. Kronenberg Laura Vives Paul Peluso Matthew Boitano
... [+7 authors] ...,
Chen-Shin Chin
Jonas Korlach
Richard K. Wilson
Evan E. Eichler

First Published November 28, 2016

Method

An extended set of yeast-based functional assays accurately identifies human disease mutations

Song Sun
Fan Yang
Guihong Tan
Michael Costanzo
Rose Oughtred
Jodi Hirschman Chandra L. Theesfeld Pritpal Bansal Nidhi Sahni Song Yi Analyn Yu Tanya Tyagi Cathy Tie David E. Hill Marc Vidal
... [+10 authors] ...,
Brenda J. Andrews
Charles Boone
Kara Dolinski
Frederick P. Roth

First Published March 14, 2016

Resource

C. elegans ORFeome" > Large-scale RACE approach for proactive experimental definition of C. elegans ORFeome

Kourosh Salehi-Ashtiani
Chenwei Lin
Tong Hao
Yun Shen
David Szeto
Xinping Yang Lila Ghamsari HanJoo Lee Changyu Fan Ryan R. Murray Stuart Milstein Nenad Svrzikapa
... [+7 authors] ...,
Michael E. Cusick
Frederick P. Roth
David E. Hill
Marc Vidal

First Published October 2, 2009

Resource

Analysis of the human E2 ubiquitin conjugating enzyme protein interaction network

Gabriel Markson
Christina Kiel
Russell Hyde
Stephanie Brown
Panagoula Charalabous
Anja Bremm Jennifer Semple Jonathan Woodsmith Simon Duley Kourosh Salehi-Ashtiani Marc Vidal
... [+6 authors] ...,
David Komander
Luis Serrano
Paul Lehner
Christopher M. Sanderson

First Published June 23, 2009

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Your search for returned 26 results

Resource

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

Research

TBC1D3 gene family in humans" > Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans

Research

Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall

Research

Gaps and complex structurally variant loci in phased genome assemblies

Corrigendum

Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data

Research

Yeast genetic interaction screen of human genes associated with amyotrophic lateral sclerosis: identification of MAP2K5 kinase as a potential drug target

Research

Discovery and genotyping of structural variation from long-read haploid genome sequence data

Method

An extended set of yeast-based functional assays accurately identifies human disease mutations

Resource

C. elegans ORFeome" > Large-scale RACE approach for proactive experimental definition of C. elegans ORFeome

Resource

Analysis of the human E2 ubiquitin conjugating enzyme protein interaction network

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