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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

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

Highly complete long-read genomes reveal pangenomic variation underlying yeast phenotypic diversity

  • Cory A. Weller
  • Ilya Andreev
  • Michael J. Chambers
  • Morgan Park
  • Joshua S. Bloom
  • Meru J. Sadhu Beatrice B. Barnabas Sean Black Gerard G. Bouffard Shelise Y. Brooks Juyun Crawford Holly Marfani Lyudmila Dekhtyar Joel Han Shi-Ling Ho Richelle Legaspi Quino L. Maduro Catherine A. Masiello Jennifer C. McDowell Casandra Montemayor James C. Mullikin Morgan Park Nancy L. Riebow Karen Schandler Brian Schmidt Christina Sison Sirintorn Stantripop
  • ... [+22 authors] ...,
  • James W. Thomas
  • Pamela J. Thomas
  • Meghana Vemulapalli
  • Alice C. Young
  • First Published May 1, 2023

Cell-type–specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes

  • Tongwu Zhang
  • Jiyeon Choi
  • Michael A. Kovacs
  • Jianxin Shi
  • Mai Xu
  • Alisa M. Goldstein Adam J. Trower D. Timothy Bishop Mark M. Iles David L. Duffy Stuart MacGregor Laufey T. Amundadottir Matthew H. Law Stacie K. Loftus William J. Pavan Kevin M. Brown Matthew H. Law D. Timothy Bishop Jeffrey E. Lee Myriam Brossard Nicholas G. Martin Eric K. Moses Fengju Song Jennifer H. Barrett Rajiv Kumar Douglas F. Easton Paul D.P. Pharoah Anthony J. Swerdlow Katerina P. Kypreou John C. Taylor Mark Harland Juliette Randerson-Moor Lars A. Akslen Per A. Andresen Marie-Françoise Avril Esther Azizi Giovanna Bianchi Scarrà Kevin M. Brown Tadeusz Dȩbniak David L. Duffy David E. Elder Shenying Fang Eitan Friedman Pilar Galan Paola Ghiorzo Elizabeth M. Gillanders Alisa M. Goldstein Nelleke A. Gruis Johan Hansson Per Helsing Marko Hočevar Veronica Höiom Christian Ingvar Peter A. Kanetsky Wei V. Chen Maria Teresa Landi Julie Lang G. Mark Lathrop Jan Lubiński Rona M. Mackie Graham J. Mann Anders Molven Grant W. Montgomery Srdjan Novaković Håkan Olsson Susana Puig Joan Anton Puig-Butille Wenting Wu Abrar A. Qureshi Graham L. Radford-Smith Nienke van der Stoep Remco van Doorn David C. Whiteman Jamie E. Craig Dirk Schadendorf Lisa A. Simms Kathryn P. Burdon Dale R. Nyholt Karen A. Pooley Nick Orr Alexander J. Stratigos Anne E. Cust Sarah V. Ward Nicholas K. Hayward Jiali Han Hans-Joachim Schulze Alison M. Dunning Julia A. Newton Bishop Florence Demenais Christopher I. Amos Stuart MacGregor Mark M. Iles Beatrice B. Barnabas Gerard G. Bouffard Shelis Y. Brooks Holly Coleman Lyudmila Dekhtyar Xiaobin Guan Joel Han Shi-ling Ho Richelle Legaspi Quino L. Maduro Catherine A. Masiello Jennifer C. McDowell Casandra Montemayor James C. Mullikin Morgan Park Nancy L. Riebow Karen Schandler Brian Schmidt Christina Sison Raymond Smith Sirintorn Stantripop
  • ... [+108 authors] ...,
  • James W. Thomas
  • Pamela J. Thomas
  • Meghana Vemulapalli
  • Alice C. Young
  • First Published October 17, 2018

The altered landscape of the human skin microbiome in patients with primary immunodeficiencies

  • Julia Oh
  • Alexandra F. Freeman
  • Morgan Park
  • Robert Sokolic
  • Fabio Candotti
  • Steven M. Holland
  • Julia A. Segre
  • Heidi H. Kong
  • First Published October 29, 2013

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

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

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

The completion of the Mammalian Gene Collection (MGC)

  • Gary Temple
  • Daniela S. Gerhard
  • Rebekah Rasooly
  • Elise A. Feingold
  • Peter J. Good
  • Cristen Robinson Allison Mandich Jeffrey G. Derge Jeanne Lewis Debonny Shoaf Francis S. Collins Wonhee Jang Lukas Wagner Carolyn M. Shenmen Leonie Misquitta Carl F. Schaefer Kenneth H. Buetow Tom I. Bonner Linda Yankie Ming Ward Lon Phan Alex Astashyn Garth Brown Catherine Farrell Jennifer Hart Melissa Landrum Bonnie L. Maidak Michael Murphy Terence Murphy Bhanu Rajput Lillian Riddick David Webb Janet Weber Wendy Wu Kim D. Pruitt Donna Maglott Adam Siepel Brona Brejova Mark Diekhans Rachel Harte Robert Baertsch Jim Kent David Haussler Michael Brent Laura Langton Charles L.G. Comstock Michael Stevens Chaochun Wei Marijke J. van Baren Kourosh Salehi-Ashtiani Ryan R. Murray Lila Ghamsari Elizabeth Mello Chenwei Lin Christa Pennacchio Kirsten Schreiber Nicole Shapiro Amber Marsh Elizabeth Pardes Troy Moore Anita Lebeau Mike Muratet Blake Simmons David Kloske Stephanie Sieja James Hudson Praveen Sethupathy Michael Brownstein Narayan Bhat Joseph Lazar Howard Jacob Chris E. Gruber Mark R. Smith John McPherson Angela M. Garcia Preethi H. Gunaratne Jiaqian Wu Donna Muzny Richard A. Gibbs Alice C. Young Gerard G. Bouffard Robert W. Blakesley Jim Mullikin Eric D. Green Mark C. Dickson Alex C. Rodriguez Jane Grimwood Jeremy Schmutz Richard M. Myers Martin Hirst Thomas Zeng Kane Tse Michelle Moksa Merinda Deng Kevin Ma Diana Mah Johnson Pang Greg Taylor Eric Chuah Athena Deng Keith Fichter Anne Go Stephanie Lee Jing Wang Malachi Griffith Ryan Morin Richard A. Moore Michael Mayo Sarah Munro Susan Wagner Steven J.M. Jones Robert A. Holt Marco A. Marra Sun Lu Shuwei Yang James Hartigan Marcus Graf Ralf Wagner Stanley Letovksy Jacqueline C. Pulido Keith Robison Dominic Esposito James Hartley
  • ... [+118 authors] ...,
  • Vanessa E. Wall
  • Ralph F. Hopkins
  • Osamu Ohara
  • Stefan Wiemann
  • First Published September 18, 2009

ABySS: A parallel assembler for short read sequence data

  • Jared T. Simpson
  • Kim Wong
  • Shaun D. Jackman
  • Jacqueline E. Schein
  • Steven J.M. Jones
  • İnanç Birol
  • First Published February 27, 2009
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