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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
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
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
LETTER

The portability of tagSNPs across populations: A worldwide survey

  • Anna González-Neira
  • Xiayi Ke
  • Oscar Lao
  • Francesc Calafell
  • Arcadi Navarro
  • David Comas Howard Cann Suzannah Bumpstead Jilur Ghori Sarah Hunt
  • ... [+5 authors] ...,
  • Panos Deloukas
  • Ian Dunham
  • Lon R. Cardon
  • Jaume Bertranpetit
  • First Published February 8, 2006
LETTER

Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants

  • Robert Lawrence
  • David M. Evans
  • Andrew P. Morris
  • Xiayi Ke
  • Sarah Hunt
  • Marta Paolucci
  • ... [+1 authors] ...,
  • Jiannis Ragoussis
  • Panos Deloukas
  • David Bentley
  • Lon R. Cardon
  • First Published October 26, 2005
RESOURCE

Complete MHC Haplotype Sequencing for Common Disease Gene Mapping

  • C. Andrew Stewart
  • Roger Horton
  • Richard J.N. Allcock
  • Jennifer L. Ashurst
  • Alexey M. Atrazhev
  • Penny Coggill Ian Dunham Simon Forbes Karen Halls Joanna M.M. Howson Sean J. Humphray Sarah Hunt Andrew J. Mungall Kazutoyo Osoegawa Sophie Palmer Anne N. Roberts Jane Rogers Sarah Sims Yu Wang Laurens G. Wilming John F. Elliott Pieter J. de Jong
  • ... [+17 authors] ...,
  • Stephen Sawcer
  • John A. Todd
  • John Trowsdale
  • Stephan Beck
  • First Published May 12, 2004
RESOURCE

A Whole-Genome Mouse BAC Microarray With 1-Mb Resolution for Analysis of DNA Copy Number Changes by Array Comparative Genomic Hybridization

  • Yeun-Jun Chung
  • Jos Jonkers
  • Hannah Kitson
  • Heike Fiegler
  • Sean Humphray
  • Carol Scott Sarah Hunt Yuejin Yu Ichiko Nishijima
  • ... [+4 authors] ...,
  • Arno Velds
  • Henne Holstege
  • Nigel Carter
  • Allan Bradley
  • First Published January 5, 2004
RESOURCE

A SNP Resource for Human Chromosome 22: Extracting Dense Clusters of SNPs From the Genomic Sequence

  • Elisabeth Dawson
  • Yuan Chen
  • Sarah Hunt
  • Luc J. Smink
  • Adrienne Hunt
  • Kate Rice Simon Livingston Suzannah Bumpstead Richard Bruskiewich Pak Sham Rocky Ganske Mark Adams Kazuhiko Kawasaki Nobuyoshi Shimizu
  • ... [+9 authors] ...,
  • Shinsei Minoshima
  • Bruce Roe
  • David Bentley
  • Ian Dunham
  • First Published January 1, 2001
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