Search | Genome Research

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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

Method

Accurate sequencing of DNA motifs able to form alternative (non-B) structures

Matthias H. Weissensteiner
Marzia A. Cremona
Wilfried M. Guiblet
Nicholas Stoler
Robert S. Harris
Monika Cechova
... [+1 authors] ...,
Kristin A. Eckert
Francesca Chiaromonte
Yi-Fei Huang
Kateryna D. Makova

First Published July 11, 2023

Research

Selection and thermostability suggest G-quadruplexes are novel functional elements of the human genome

Wilfried M. Guiblet
Michael DeGiorgio
Xiaoheng Cheng
Francesca Chiaromonte
Kristin A. Eckert
Yi-Fei Huang
Kateryna D. Makova

First Published June 29, 2021

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

Research

Long-read sequencing technology indicates genome-wide effects of non-B DNA on polymerization speed and error rate

Wilfried M. Guiblet
Marzia A. Cremona
Monika Cechova
Robert S. Harris
Iva Kejnovská
Eduard Kejnovsky
Kristin Eckert
Francesca Chiaromonte
Kateryna D. Makova

First Published November 6, 2018

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: A genome-wide analysis of common fragile sites: What features determine chromosomal instability in the human genome?

Arkarachai Fungtammasan
Erin Walsh
Francesca Chiaromonte
Kristin A. Eckert
Kateryna D. Makova

First Published October 3, 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

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