Search | Genome Research

ONT_LB_GRRNA_RealTime

Your search for returned 42 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

Research

cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia" > Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia

Hao Zhu
Jiao Zhang
Soumya Rao
Matthew D. Durbin
Ying Li
Ruirui Lang Jiqiang Liu Baichuan Xiao Hailin Shan Ziqiu Meng Jinmo Wang Xiaokai Tang Zhenni Shi Liza L. Cox Shouqin Zhao Stephanie M. Ware Tiong Y. Tan Michelle de Silva Lyndon Gallacher Ting Liu Jie Mi Changqing Zeng Hou-Feng Zheng
... [+18 authors] ...,
Qingguo Zhang
Stylianos E. Antonarakis
Timothy C. Cox
Yong-Biao Zhang

First Published April 15, 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

Perspective

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

Stylianos E. Antonarakis

First Published March 31, 2022

In memoriam

Haig H. Kazazian, Jr. (1937–2022)

Stylianos E. Antonarakis
Stuart H. Orkin

First Published March 21, 2022

Method

Long-read single-molecule maps of the functional methylome

Hila Sharim
Assaf Grunwald
Tslil Gabrieli
Yael Michaeli
Sapir Margalit
Dmitry Torchinsky Rani Arielly Gil Nifker Matyas Juhasz Felix Gularek Miguel Almalvez Brandon Dufault Sreetama Sen Chandra Alexander Liu Surajit Bhattacharya Yi-Wen Chen Eric Vilain Kathryn R. Wagner Jonathan Pevsner Jeff Reifenberger Ernest T. Lam Alex R. Hastie
... [+17 authors] ...,
Han Cao
Hayk Barseghyan
Elmar Weinhold
Yuval Ebenstein

First Published March 7, 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

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

Konstantin Popadin
Stephan Peischl
Marco Garieri
M. Reza Sailani
Audrey Letourneau
Federico Santoni Samuel W. Lukowski Georgii A. Bazykin Sergey Nikolaev
... [+4 authors] ...,
Diogo Meyer
Laurent Excoffier
Alexandre Reymond
Stylianos E. Antonarakis

First Published December 13, 2017

Method

HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies

Peter Edge
Vineet Bafna
Vikas Bansal

First Published December 9, 2016

Research

APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication

Vladimir B. Seplyarskiy
Ruslan A. Soldatov
Konstantin Y. Popadin
Stylianos E. Antonarakis
Georgii A. Bazykin
Sergey I. Nikolaev

First Published January 11, 2016

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