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Review

Hash functions in nucleotide sequence analysis

  • Ke Chen
  • Xiang Li
  • Qian Shi
  • Mingfu Shao
  • Paul Medvedev
  • First Published May 4, 2026
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

Efficient mapping of accurate long reads in minimizer space with mapquik

  • Bariş Ekim
  • Kristoffer Sahlin
  • Paul Medvedev
  • Bonnie Berger
  • Rayan Chikhi
  • First Published June 30, 2023
RECOMB 2022 Special/Methods

Assembler artifacts include misassembly because of unsafe unitigs and underassembly because of bidirected graphs

  • Amatur Rahman
  • Paul Medvedev
  • First Published July 27, 2022
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
Review

k-mers for querying large collections of sequencing data sets" > Data structures based on k-mers for querying large collections of sequencing data sets

  • Camille Marchet
  • Christina Boucher
  • Simon J. Puglisi
  • Paul Medvedev
  • Mikaël Salson
  • Rayan Chikhi
  • First Published December 16, 2020
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

Yeast genetic interaction screen of human genes associated with amyotrophic lateral sclerosis: identification of MAP2K5 kinase as a potential drug target

  • Myungjin Jo
  • Ah Young Chung
  • Nozomu Yachie
  • Minchul Seo
  • Hyejin Jeon
  • Youngpyo Nam Yeojin Seo Eunmi Kim Quan Zhong
  • ... [+4 authors] ...,
  • Marc Vidal
  • Hae Chul Park
  • Frederick P. Roth
  • Kyoungho Suk
  • First Published June 8, 2017
Method

An extended set of yeast-based functional assays accurately identifies human disease mutations

  • Song Sun
  • Fan Yang
  • Guihong Tan
  • Michael Costanzo
  • Rose Oughtred
  • Jodi Hirschman Chandra L. Theesfeld Pritpal Bansal Nidhi Sahni Song Yi Analyn Yu Tanya Tyagi Cathy Tie David E. Hill Marc Vidal
  • ... [+10 authors] ...,
  • Brenda J. Andrews
  • Charles Boone
  • Kara Dolinski
  • Frederick P. Roth
  • First Published March 14, 2016
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