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Your search for returned 57 results

Research

Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T

Luis F. Paulin
Jeremy Fan
Kieran O'Neill
Erin Pleasance
Vanessa L. Porter
Steven J.M. Jones
Fritz J. Sedlazeck

First Published March 17, 2025

Research

Rearrangements of viral and human genomes at human papillomavirus integration events and their allele-specific impacts on cancer genome regulation

Vanessa L. Porter
Michelle Ng
Kieran O'Neill
Signe MacLennan
Richard D. Corbett
Luka Culibrk Zeid Hamadeh Marissa Iden Rachel Schmidt Shirng-Wern Tsaih Carolyn Nakisige Martin Origa Jackson Orem Glenn Chang Jeremy Fan Ka Ming Nip Vahid Akbari Simon K. Chan James Hopkins Richard A. Moore Eric Chuah Karen L. Mungall Andrew J. Mungall
... [+18 authors] ...,
Inanc Birol
Steven J.M. Jones
Janet S. Rader
Marco A. Marra

First Published December 5, 2024

Research

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

Geoffrey J. Maher
Hannah K. Ralph
Zhihao Ding
Nils Koelling
Hana Mlcochova
Eleni Giannoulatou Pawan Dhami Dirk S. Paul Stefan H. Stricker
... [+4 authors] ...,
Stephan Beck
Gilean McVean
Andrew O.M. Wilkie
Anne Goriely

First Published October 24, 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

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

Method

Spark: A navigational paradigm for genomic data exploration

Cydney B. Nielsen
Hamid Younesy
Henriette O'Geen
Xiaoqin Xu
Andrew R. Jackson
Aleksandar Milosavljevic Ting Wang
... [+2 authors] ...,
Joseph F. Costello
Martin Hirst
Peggy J. Farnham
Steven J.M. Jones

First Published September 7, 2012

Research

A functional methylome map of ulcerative colitis

Robert Häsler
Zhe Feng
Liselotte Bäckdahl
Martina E. Spehlmann
Andre Franke
Andrew Teschendorff Vardhman K. Rakyan Thomas A. Down Gareth A. Wilson
... [+4 authors] ...,
Andrew Feber
Stephan Beck
Stefan Schreiber
Philip Rosenstiel

First Published July 23, 2012

Research

Comparative methylome analysis of benign and malignant peripheral nerve sheath tumors

Andrew Feber
Gareth A. Wilson
Lu Zhang
Nadege Presneau
Bernadine Idowu
Thomas A. Down Vardhman K. Rakyan Luke A. Noon Alison C. Lloyd Elia Stupka Vassia Schiza
... [+6 authors] ...,
Andrew E. Teschendorff
Gary P. Schroth
Adrienne Flanagan
Stephan Beck

First Published February 1, 2011

Research

Locus co-occupancy, nucleosome positioning, and H3K4me1 regulate the functionality of FOXA2-, HNF4A-, and PDX1-bound loci in islets and liver

Brad G. Hoffman
Gordon Robertson
Bogard Zavaglia
Mike Beach
Rebecca Cullum
Sam Lee Galina Soukhatcheva Leping Li Elizabeth D. Wederell Nina Thiessen Mikhail Bilenky Timothee Cezard Angela Tam Baljit Kamoh Inanc Birol Derek Dai YongJun Zhao Martin Hirst C. Bruce Verchere
... [+14 authors] ...,
Cheryl D. Helgason
Marco A. Marra
Steven J.M. Jones
Pamela A. Hoodless

First Published June 15, 2010

Research

The genome sequence of the spontaneously hypertensive rat: Analysis and functional significance

Santosh S. Atanur
İnanç Birol
Victor Guryev
Martin Hirst
Oliver Hummel
Catherine Morrissey Jacques Behmoaras Xose M. Fernandez-Suarez Michelle D. Johnson William M. McLaren Giannino Patone Enrico Petretto Charles Plessy Kathleen S. Rockland Charles Rockland Kathrin Saar Yongjun Zhao Piero Carninci Paul Flicek Ted Kurtz Edwin Cuppen Michal Pravenec
... [+17 authors] ...,
Norbert Hubner
Steven J.M. Jones
Ewan Birney
Timothy J. Aitman

First Published April 29, 2010

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