Filter results by:
Author
Publication date
Article type

Filter by Article type

Your search for returned 48 results

Save search
Order by:
Show per page
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
Research

Yeast genetic interaction screen of human genes associated with amyotrophic lateral sclerosis: identification of MAP2K5 kinase as a potential drug target

  • Myungjin Jo
  • Ah Young Chung
  • Nozomu Yachie
  • Minchul Seo
  • Hyejin Jeon
  • Youngpyo Nam Yeojin Seo Eunmi Kim Quan Zhong
  • ... [+4 authors] ...,
  • Marc Vidal
  • Hae Chul Park
  • Frederick P. Roth
  • Kyoungho Suk
  • First Published June 8, 2017
Method

HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies

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

An extended set of yeast-based functional assays accurately identifies human disease mutations

  • Song Sun
  • Fan Yang
  • Guihong Tan
  • Michael Costanzo
  • Rose Oughtred
  • Jodi Hirschman Chandra L. Theesfeld Pritpal Bansal Nidhi Sahni Song Yi Analyn Yu Tanya Tyagi Cathy Tie David E. Hill Marc Vidal
  • ... [+10 authors] ...,
  • Brenda J. Andrews
  • Charles Boone
  • Kara Dolinski
  • Frederick P. Roth
  • First Published March 14, 2016
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

Natural variation of histone modification and its impact on gene expression in the rat genome

  • Carola Rintisch
  • Matthias Heinig
  • Anja Bauerfeind
  • Sebastian Schafer
  • Christin Mieth
  • Giannino Patone Oliver Hummel Wei Chen Stuart Cook Edwin Cuppen Maria Colomé-Tatché Frank Johannes Ritsert C. Jansen Helen Neil
  • ... [+9 authors] ...,
  • Michel Werner
  • Michal Pravenec
  • Martin Vingron
  • Norbert Hubner
  • First Published May 2, 2014
Method

Amplification and thrifty single-molecule sequencing of recurrent somatic structural variations

  • Anand Patel
  • Richard Schwab
  • Yu-Tsueng Liu
  • Vineet Bafna
  • First Published December 4, 2013
Show per page