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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
Method

Read clouds uncover variation in complex regions of the human genome

  • Alex Bishara
  • Yuling Liu
  • Ziming Weng
  • Dorna Kashef-Haghighi
  • Daniel E. Newburger
  • Robert West
  • Arend Sidow
  • Serafim Batzoglou
  • First Published August 18, 2015
Method

Parente2: a fast and accurate method for detecting identity by descent

  • Jesse M. Rodriguez
  • Sivan Bercovici
  • Lin Huang
  • Roy Frostig
  • Serafim Batzoglou
  • First Published October 1, 2014
Research

Genome evolution during progression to breast cancer

  • Daniel E. Newburger
  • Dorna Kashef-Haghighi
  • Ziming Weng
  • Raheleh Salari
  • Robert T. Sweeney
  • Alayne L. Brunner Shirley X. Zhu Xiangqian Guo Sushama Varma
  • ... [+4 authors] ...,
  • Megan L. Troxell
  • Robert B. West
  • Serafim Batzoglou
  • Arend Sidow
  • First Published April 8, 2013
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
Method

Ubiquitous heterogeneity and asymmetry of the chromatin environment at regulatory elements

  • Anshul Kundaje
  • Sofia Kyriazopoulou-Panagiotopoulou
  • Max Libbrecht
  • Cheryl L. Smith
  • Debasish Raha
  • Elliott E. Winters
  • ... [+1 authors] ...,
  • Steven M. Johnson
  • Michael Snyder
  • Serafim Batzoglou
  • Arend Sidow
  • First Published September 5, 2012
Resource

ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia

  • Stephen G. Landt
  • Georgi K. Marinov
  • Anshul Kundaje
  • Pouya Kheradpour
  • Florencia Pauli
  • Serafim Batzoglou Bradley E. Bernstein Peter Bickel James B. Brown Philip Cayting Yiwen Chen Gilberto DeSalvo Charles Epstein Katherine I. Fisher-Aylor Ghia Euskirchen Mark Gerstein Jason Gertz Alexander J. Hartemink Michael M. Hoffman Vishwanath R. Iyer Youngsook L. Jung Subhradip Karmakar Manolis Kellis Peter V. Kharchenko Qunhua Li Tao Liu X. Shirley Liu Lijia Ma Aleksandar Milosavljevic Richard M. Myers Peter J. Park Michael J. Pazin Marc D. Perry Debasish Raha Timothy E. Reddy Joel Rozowsky Noam Shoresh Arend Sidow Matthew Slattery John A. Stamatoyannopoulos Michael Y. Tolstorukov Kevin P. White Simon Xi
  • ... [+38 authors] ...,
  • Peggy J. Farnham
  • Jason D. Lieb
  • Barbara J. Wold
  • Michael Snyder
  • First Published September 5, 2012
Method

Linking disease associations with regulatory information in the human genome

  • Marc A. Schaub
  • Alan P. Boyle
  • Anshul Kundaje
  • Serafim Batzoglou
  • Michael Snyder
  • First Published September 5, 2012
Letter

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

  • David L. Goode
  • Gregory M. Cooper
  • Jeremy Schmutz
  • Mark Dickson
  • Eidelyn Gonzales
  • Ming Tsai Kalpana Karra
  • ... [+2 authors] ...,
  • Eugene Davydov
  • Serafim Batzoglou
  • Richard M. Myers
  • Arend Sidow
  • First Published January 12, 2010
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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