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Single-cell template strand sequencing reveals culture-induced chromosomal instability in a gibbon cell line

Alessia Daponte
Gerardina Chirico
Annalisa Paparella
Annalaura Montanari
Caterina Manzari
Martina Macino Oliver Dionisi Dyck Francesco De Leonardis Flavia Angela Maria Maggiolini Alberto L'Abbate Francesco Montinaro Sandra Louzada
... [+7 authors] ...,
Mario Ventura
Ashley D. Sanders
Francesca Antonacci
Claudia Rita Catacchio

First Published May 4, 2026

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

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

A high-resolution map of small-scale inversions in the gibbon genome

Ludovica Mercuri
Donato Palmisano
Alberto L'Abbate
Pietro D'Addabbo
Francesco Montinaro
Claudia Rita Catacchio Patrick Hasenfeld Mario Ventura
... [+3 authors] ...,
Jan O. Korbel
Ashley D. Sanders
Flavia Angela Maria Maggiolini
Francesca Antonacci

First Published September 30, 2022

Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution

Flavia Angela Maria Maggiolini
Ashley D. Sanders
Colin James Shew
Arvis Sulovari
Yafei Mao
Marta Puig Claudia Rita Catacchio Maria Dellino Donato Palmisano Ludovica Mercuri Miriana Bitonto David Porubský Mario Cáceres Evan E. Eichler
... [+9 authors] ...,
Mario Ventura
Megan Y. Dennis
Jan O. Korbel
Francesca Antonacci

First Published October 22, 2020

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

Inversion variants in human and primate genomes

Claudia Rita Catacchio
Flavia Angela Maria Maggiolini
Pietro D'Addabbo
Miriana Bitonto
Oronzo Capozzi
Martina Lepore Signorile Mattia Miroballo
... [+2 authors] ...,
Nicoletta Archidiacono
Evan E. Eichler
Mario Ventura
Francesca Antonacci

First Published May 18, 2018

Corrigendum: The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2

Mario Ventura
Claudia R. Catacchio
Saba Sajjadian
Laura Vives
Peter H. Sudmant
Tomas Marques-Bonet
Tina A. Graves
Richard K. Wilson
Evan E. Eichler

First Published September 1, 2017

HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies

Peter Edge
Vineet Bafna
Vikas Bansal

First Published December 9, 2016

Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region

Kiana Mohajeri
Stuart Cantsilieris
John Huddleston
Bradley J. Nelson
Bradley P. Coe
Catarina D. Campbell Carl Baker Lana Harshman Katherine M. Munson Zev N. Kronenberg Milinn Kremitzki Archana Raja Claudia Rita Catacchio
... [+8 authors] ...,
Tina A. Graves
Richard K. Wilson
Mario Ventura
Evan E. Eichler

First Published October 7, 2016

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