Search | Genome Research

Your search for returned 40 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

Method

Bombyx mori" > High-throughput and genome-scale targeted mutagenesis using CRISPR in a nonmodel multicellular organism, Bombyx mori

Sanyuan Ma
Tong Zhang
Ruolin Wang
Pan Wang
Yue Liu
Jiasong Chang Aoming Wang Xinhui Lan Le Sun Hao Sun Run Shi Wei Lu Dan Liu Na Zhang Wenbo Hu
... [+10 authors] ...,
Xiaogang Wang
Weiqing Xing
Ling Jia
Qingyou Xia

First Published January 8, 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

Bombyx mori" > Genome-wide CRISPR screening reveals genes essential for cell viability and resistance to abiotic and biotic stresses in Bombyx mori

Jiasong Chang
Ruolin Wang
Kai Yu
Tong Zhang
Xiaoxu Chen
Yue Liu
... [+1 authors] ...,
Run Shi
Xiaogang Wang
Qingyou Xia
Sanyuan Ma

First Published May 18, 2020

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

1
2
3