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Research

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

  • Wouter Steyaert
  • Lydia Sagath
  • German Demidov
  • Vicente A. Yépez
  • Anna Esteve-Codina
  • Julien Gagneur Kornelia Ellwanger Ronny Derks Marjan Weiss Amber den Ouden Simone van den Heuvel Hilde Swinkels Nick Zomer Marloes Steehouwer Luke O'Gorman Galuh Astuti Kornelia Neveling Rebecca Schüle Jishu Xu Matthis Synofzik Danique Beijer Holger Hengel Ludger Schöls Kristl G. Claeys Jonathan Baets Liedewei Van de Vondel Alessandra Ferlini Rita Selvatici Heba Morsy Marwa Saeed Abd Elmaksoud Volker Straub Juliane Müller Veronica Pini Luke Perry Anna Sarkozy Irina Zaharieva Francesco Muntoni Enrico Bugiardini Kiran Polavarapu Rita Horvath Evan Reid Hanns Lochmüller Marco Spinazzi Marco Savarese Leslie Matalonga Steven Laurie Han G. Brunner Holm Graessner Sergi Beltran
  • ... [+44 authors] ...,
  • Stephan Ossowski
  • Lisenka E.L.M. Vissers
  • Christian Gilissen
  • Alexander Hoischen
  • First Published March 26, 2025
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

Zea mays L.) hybrids relative to their inbred parents" > Complementation contributes to transcriptome complexity in maize (Zea mays L.) hybrids relative to their inbred parents

  • Anja Paschold
  • Yi Jia
  • Caroline Marcon
  • Steve Lund
  • Nick B. Larson
  • Cheng-Ting Yeh Stephan Ossowski
  • ... [+2 authors] ...,
  • Christa Lanz
  • Dan Nettleton
  • Patrick S. Schnable
  • Frank Hochholdinger
  • First Published October 19, 2012
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
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
Resource

The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine

  • Leslie G. Biesecker
  • James C. Mullikin
  • Flavia M. Facio
  • Clesson Turner
  • Praveen F. Cherukuri
  • Robert W. Blakesley Gerard G. Bouffard Peter S. Chines Pedro Cruz Nancy F. Hansen Jamie K. Teer Baishali Maskeri Alice C. Young Teri A. Manolio Alexander F. Wilson Toren Finkel Paul Hwang Andrew Arai Alan T. Remaley
  • ... [+14 authors] ...,
  • Vandana Sachdev
  • Robert Shamburek
  • Richard O. Cannon
  • Eric D. Green
  • First Published July 14, 2009
LETTER

Comparative sequence analysis of primate subtelomeres originating from a chromosome fission event

  • M. Katharine Rudd
  • RaeLynn M. Endicott
  • Cynthia Friedman
  • Megan Walker
  • Janet M. Young
  • Kazutoyo Osoegawa
  • Pieter J. de Jong
  • Eric D. Green
  • Barbara J. Trask
  • First Published October 24, 2008
RESOURCE

Arabidopsis thaliana with short reads" > Sequencing of natural strains of Arabidopsis thaliana with short reads

  • Stephan Ossowski
  • Korbinian Schneeberger
  • Richard M. Clark
  • Christa Lanz
  • Norman Warthmann
  • Detlef Weigel
  • First Published September 25, 2008
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