Search | Genome Research

Research

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

Seamless, rapid, and accurate analyses of outbreak genomic data using split k-mer analysis

Romain Derelle
Johanna von Wachsmann
Tommi Mäklin
Joel Hellewell
Timothy Russell
Ajit Lalvani
... [+1 authors] ...,
Leonid Chindelevitch
Nicholas J. Croucher
Simon R. Harris
John A. Lees

First Published October 15, 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

Ancestry-agnostic estimation of DNA sample contamination from sequence reads

Fan Zhang
Matthew Flickinger
Sarah A. Gagliano Taliun
Gonçalo R. Abecasis
Laura J. Scott
Steven A. McCaroll
Carlos N. Pato
Michael Boehnke
Hyun Min Kang

First Published January 24, 2020

Method

Fast and flexible bacterial genomic epidemiology with PopPUNK

John A. Lees
Simon R. Harris
Gerry Tonkin-Hill
Rebecca A. Gladstone
Stephanie W. Lo
Jeffrey N. Weiser
Jukka Corander
Stephen D. Bentley
Nicholas J. Croucher

First Published January 24, 2019

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

Research

Systematic longitudinal survey of invasive Escherichia coli in England demonstrates a stable population structure only transiently disturbed by the emergence of ST131

Teemu Kallonen
Hayley J. Brodrick
Simon R. Harris
Jukka Corander
Nicholas M. Brown
Veronique Martin
Sharon J. Peacock
Julian Parkhill

First Published July 18, 2017

Research

Comprehensive global genome dynamics of Chlamydia trachomatis show ancient diversification followed by contemporary mixing and recent lineage expansion

James Hadfield
Simon R. Harris
Helena M.B. Seth-Smith
Surendra Parmar
Patiyan Andersson
Philip M. Giffard Julius Schachter Jeanne Moncada Louise Ellison María Lucía Gallo Vaulet Marcelo Rodríguez Fermepin Frans Radebe Suyapa Mendoza Sander Ouburg Servaas A. Morré Konrad Sachse Mirja Puolakkainen Suvi J. Korhonen Chris Sonnex Rebecca Wiggins Hamid Jalal Tamara Brunelli Patrizia Casprini Rachel Pitt Cathy Ison Alevtina Savicheva Elena Shipitsyna Ronza Hadad Laszlo Kari Matthew J. Burton David Mabey Anthony W. Solomon David Lewis Peter Marsh
... [+29 authors] ...,
Magnus Unemo
Ian N. Clarke
Julian Parkhill
Nicholas R. Thomson

First Published June 6, 2017

Research

Multiple major disease-associated clones of Legionella pneumophila have emerged recently and independently

Sophia David
Christophe Rusniok
Massimo Mentasti
Laura Gomez-Valero
Simon R. Harris
Pierre Lechat John Lees Christophe Ginevra Philippe Glaser Laurence Ma Christiane Bouchier Anthony Underwood
... [+7 authors] ...,
Sophie Jarraud
Timothy G. Harrison
Julian Parkhill
Carmen Buchrieser

First Published September 23, 2016

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Your search for returned 39 results

Research

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

Method

Seamless, rapid, and accurate analyses of outbreak genomic data using split k-mer analysis

Perspective

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

In memoriam

Haig H. Kazazian, Jr. (1937–2022)

Method

Ancestry-agnostic estimation of DNA sample contamination from sequence reads

Method

Fast and flexible bacterial genomic epidemiology with PopPUNK

Research

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

Research

Systematic longitudinal survey of invasive Escherichia coli in England demonstrates a stable population structure only transiently disturbed by the emergence of ST131

Research

Comprehensive global genome dynamics of Chlamydia trachomatis show ancient diversification followed by contemporary mixing and recent lineage expansion

Research

Multiple major disease-associated clones of Legionella pneumophila have emerged recently and independently

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Your search for returned 39 results

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