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In memoriam

C. Thomas Caskey (1938–2022)

  • Richard A. Gibbs
  • Aravinda Chakravarti
  • Evan E. Eichler
  • Eric D. Green
  • Richard M. Myers
  • Anne C. Ferguson-Smith
  • Kateryna D. Makova
  • Hillary E. Sussman
  • First Published February 17, 2022
In memoriam

Deborah A. Nickerson (1954 –2021)

  • Aravinda Chakravarti
  • Evan E. Eichler
  • Richard A. Gibbs
  • Eric D. Green
  • Richard M. Myers
  • Hillary E. Sussman
  • First Published January 24, 2022
Research

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

  • Joanna Kaplanis
  • Nadia Akawi
  • Giuseppe Gallone
  • Jeremy F. McRae
  • Elena Prigmore
  • Caroline F. Wright
  • ... [+1 authors] ...,
  • David R. Fitzpatrick
  • Helen V. Firth
  • Jeffrey C. Barrett
  • Matthew E. Hurles
  • First Published June 21, 2019
Research

Pathogenicity and selective constraint on variation near splice sites

  • Jenny Lord
  • Giuseppe Gallone
  • Patrick J. Short
  • Jeremy F. McRae
  • Holly Ironfield
  • Elizabeth H. Wynn Sebastian S. Gerety Liu He Bronwyn Kerr Diana S. Johnson Emma McCann Esther Kinning Frances Flinter I. Karen Temple Jill Clayton-Smith Meriel McEntagart Sally Ann Lynch Shelagh Joss Sofia Douzgou Tabib Dabir Virginia Clowes Vivienne P.M. McConnell Wayne Lam Caroline F. Wright
  • ... [+19 authors] ...,
  • David R. FitzPatrick
  • Helen V. Firth
  • Jeffrey C. Barrett
  • Matthew E. Hurles
  • First Published December 26, 2018
Method

Detection of structural mosaicism from targeted and whole-genome sequencing data

  • Daniel A. King
  • Alejandro Sifrim
  • Tomas W. Fitzgerald
  • Raheleh Rahbari
  • Emma Hobson
  • Tessa Homfray Sahar Mansour Sarju G. Mehta
  • ... [+3 authors] ...,
  • Mohammed Shehla
  • Susan E. Tomkins
  • Pradeep C. Vasudevan
  • Matthew E. Hurles
  • First Published August 30, 2017
Method

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

  • Daniel A. King
  • Tomas W. Fitzgerald
  • Ray Miller
  • Natalie Canham
  • Jill Clayton-Smith
  • Diana Johnson
  • ... [+1 authors] ...,
  • Sahar Mansour
  • Fiona Stewart
  • Pradeep Vasudevan
  • Matthew E. Hurles
  • First Published December 19, 2013
Research

XIST locus" > Comparative analysis of the primate X-inactivation center region and reconstruction of the ancestral primate XIST locus

  • Julie E. Horvath
  • Christina B. Sheedy
  • Stephanie L. Merrett
  • Abdoulaye Banire Diallo
  • David L. Swofford
  • NISC Comparative Sequencing Program
  • Eric D. Green
  • Huntington F. Willard
  • First Published April 25, 2011
Method

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

  • Jamie K. Teer
  • Lori L. Bonnycastle
  • Peter S. Chines
  • Nancy F. Hansen
  • Natsuyo Aoyama
  • Amy J. Swift Hatice Ozel Abaan Thomas J. Albert Elliott H. Margulies
  • ... [+4 authors] ...,
  • Eric D. Green
  • Francis S. Collins
  • James C. Mullikin
  • Leslie G. Biesecker
  • First Published September 1, 2010
Research

Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome

  • Aaron R. Quinlan
  • Royden A. Clark
  • Svetlana Sokolova
  • Mitchell L. Leibowitz
  • Yujun Zhang
  • Matthew E. Hurles
  • Joshua C. Mell
  • Ira M. Hall
  • First Published March 22, 2010
Resource

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
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