Search | Genome Research

Your search for returned 47 results

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

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

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

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

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

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