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Method

Optimal marker genes for c-separated cell types with SepSolve

  • Bartol Borozan
  • Tomislav Prusina
  • Luka Borozan
  • Domagoj Ševerdija
  • Francisca Rojas Ringeling
  • Domagoj Matijević
  • Stefan Canzar
  • First Published October 9, 2025
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

Partial alignment of multislice spatially resolved transcriptomics data

  • Xinhao Liu
  • Ron Zeira
  • Benjamin J. Raphael
  • First Published August 8, 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
Method

Linear-time cluster ensembles of large-scale single-cell RNA-seq and multimodal data

  • Van Hoan Do
  • Francisca Rojas Ringeling
  • Stefan Canzar
  • First Published February 24, 2021
Method

Reconstruction of clone- and haplotype-specific cancer genome karyotypes from bulk tumor samples

  • Sergey Aganezov
  • Benjamin J. Raphael
  • First Published September 4, 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
Method

Single-cell sequencing data reveal widespread recurrence and loss of mutational hits in the life histories of tumors

  • Jack Kuipers
  • Katharina Jahn
  • Benjamin J. Raphael
  • Niko Beerenwinkel
  • First Published October 13, 2017
Resource

GenomeVIP: a cloud platform for genomic variant discovery and interpretation

  • R. Jay Mashl
  • Adam D. Scott
  • Kuan-lin Huang
  • Matthew A. Wyczalkowski
  • Christopher J. Yoon
  • Beifang Niu Erin DeNardo Venkata D. Yellapantula Robert E. Handsaker Ken Chen Daniel C. Koboldt Kai Ye
  • ... [+7 authors] ...,
  • David Fenyö
  • Benjamin J. Raphael
  • Michael C. Wendl
  • Li Ding
  • First Published May 18, 2017
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