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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

Accurate estimation of intraspecific microbial gene content variation in metagenomic data with MIDAS v3 and StrainPGC

  • Byron J. Smith
  • Chunyu Zhao
  • Veronika Dubinkina
  • Xiaofan Jin
  • Liron Zahavi
  • Saar Shoer
  • Jacqueline Moltzau-Anderson
  • Eran Segal
  • Katherine S. Pollard
  • First Published April 10, 2025
Method

Optimizing nanopore adaptive sampling for pneumococcal serotype surveillance in complex samples using the graph-based GNASTy algorithm

  • Samuel T. Horsfield
  • Basil C.T. Fok
  • Yuhan Fu
  • Paul Turner
  • John A. Lees
  • Nicholas J. Croucher
  • First Published March 4, 2025
Method

Pangenome-spanning epistasis and coselection analysis via de Bruijn graphs

  • Juri Kuronen
  • Samuel T. Horsfield
  • Anna K. Pöntinen
  • Sudaraka Mallawaarachchi
  • Sergio Arredondo-Alonso
  • Harry Thorpe Rebecca A. Gladstone Rob J.L. Willems Stephen D. Bentley Nicholas J. Croucher
  • ... [+5 authors] ...,
  • Johan Pensar
  • John A. Lees
  • Gerry Tonkin-Hill
  • Jukka Corander
  • First Published August 12, 2024
Method

Accurate and fast graph-based pangenome annotation and clustering with ggCaller

  • Samuel T. Horsfield
  • Gerry Tonkin-Hill
  • Nicholas J. Croucher
  • John A. Lees
  • First Published August 24, 2023
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
Research

Sequence determinants of polyadenylation-mediated regulation

  • Ilya Vainberg Slutskin
  • Adina Weinberger
  • Eran Segal
  • First Published September 17, 2019
Research

Systematic interrogation of human promoters

  • Shira Weingarten-Gabbay
  • Ronit Nir
  • Shai Lubliner
  • Eilon Sharon
  • Yael Kalma
  • Adina Weinberger
  • Eran Segal
  • First Published January 8, 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
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