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Method

OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities

  • Siavash Raeisi Dehkordi
  • Zhaoyang Jia
  • Joey Estabrook
  • Jen Hauenstein
  • Neil Miller
  • Naz Güleray-Lafci Jürgen Neesen Alex Hastie
  • ... [+3 authors] ...,
  • Alka Chaubey
  • Andy Wing Chun Pang
  • Paul Dremsek
  • Vineet Bafna
  • First Published November 14, 2025
Method

CoRAL accurately resolves extrachromosomal DNA genome structures with long-read sequencing

  • Kaiyuan Zhu
  • Matthew G. Jones
  • Jens Luebeck
  • Xinxin Bu
  • Hyerim Yi
  • King L. Hung Ivy Tsz-Lo Wong
  • ... [+2 authors] ...,
  • Shu Zhang
  • Paul S. Mischel
  • Howard Y. Chang
  • Vineet Bafna
  • First Published July 9, 2024
Research

Deficiency of nucleotide excision repair is associated with mutational signature observed in cancer

  • Myrthe Jager
  • Francis Blokzijl
  • Ewart Kuijk
  • Johanna Bertl
  • Maria Vougioukalaki
  • Roel Janssen Nicolle Besselink Sander Boymans Joep de Ligt Jakob Skou Pedersen
  • ... [+5 authors] ...,
  • Jan Hoeijmakers
  • Joris Pothof
  • Ruben van Boxtel
  • Edwin Cuppen
  • First Published June 20, 2019
Method

Targeted genotyping of variable number tandem repeats with adVNTR

  • Mehrdad Bakhtiari
  • Sharona Shleizer-Burko
  • Melissa Gymrek
  • Vikas Bansal
  • Vineet Bafna
  • First Published October 23, 2018
Method

HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies

  • Peter Edge
  • Vineet Bafna
  • Vikas Bansal
  • First Published December 9, 2016
Corrigendum

Corrigendum: Extensive microRNA-mediated crosstalk between lncRNAs and mRNAs in mouse embryonic stem cells

  • Jennifer Y. Tan
  • Tamara Sirey
  • Frantisek Honti
  • Bryony Graham
  • Allison Piovesan
  • Matthias Merkenschlager
  • Caleb Webber
  • Chris P. Ponting
  • Ana C. Marques
  • First Published September 1, 2015
Research

Characteristics of de novo structural changes in the human genome

  • Wigard P. Kloosterman
  • Laurent C. Francioli
  • Fereydoun Hormozdiari
  • Tobias Marschall
  • Jayne Y. Hehir-Kwa
  • Abdel Abdellaoui Eric-Wubbo Lameijer Matthijs H. Moed Vyacheslav Koval Ivo Renkens Markus J. van Roosmalen Pascal Arp Lennart C. Karssen Bradley P. Coe Robert E. Handsaker Eka D. Suchiman Edwin Cuppen Djie Tjwan Thung Mitch McVey Michael C. Wendl André Uitterlinden Cornelia M. van Duijn Morris A. Swertz Cisca Wijmenga GertJan B. van Ommen P. Eline Slagboom Dorret I. Boomsma Alexander Schönhuth Evan E. Eichler Paul I.W. de Bakker Kai Ye Victor Guryev André Uitterlinden Cornelia M. van Duijn Morris A. Swertz Cisca Wijmenga GertJan B. van Ommen P. Eline Slagboom Dorret I. Boomsma Alexander Schönhuth
  • ... [+35 authors] ...,
  • Evan E. Eichler
  • Paul I.W. de Bakker
  • Kai Ye
  • Victor Guryev
  • First Published April 16, 2015
Research

Extensive microRNA-mediated crosstalk between lncRNAs and mRNAs in mouse embryonic stem cells

  • Jennifer Y. Tan
  • Tamara Sirey
  • Frantisek Honti
  • Bryony Graham
  • Allison Piovesan
  • Matthias Merkenschlager
  • Caleb Webber
  • Chris P. Ponting
  • Ana C. Marques
  • First Published March 19, 2015
Research

RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts

  • Yang I. Li
  • Luis Sanchez-Pulido
  • Wilfried Haerty
  • Chris P. Ponting
  • First Published December 18, 2014
Research

Violation of the 12/23 rule of genomic V(D)J recombination is common in lymphocytes

  • Nicholas J. Parkinson
  • Matthew Roddis
  • Ben Ferneyhough
  • Gang Zhang
  • Adam J. Marsden
  • Siarhei Maslau Yasmin Sanchez-Pearson Thomas Barthlott Ian R. Humphreys Kristin Ladell
  • ... [+5 authors] ...,
  • David A. Price
  • Chris P. Ponting
  • Georg Hollander
  • Michael D. Fischer
  • First Published November 3, 2014
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