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Research

Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T

  • Luis F. Paulin
  • Jeremy Fan
  • Kieran O'Neill
  • Erin Pleasance
  • Vanessa L. Porter
  • Steven J.M. Jones
  • Fritz J. Sedlazeck
  • First Published March 17, 2025
Research

Rearrangements of viral and human genomes at human papillomavirus integration events and their allele-specific impacts on cancer genome regulation

  • Vanessa L. Porter
  • Michelle Ng
  • Kieran O'Neill
  • Signe MacLennan
  • Richard D. Corbett
  • Luka Culibrk Zeid Hamadeh Marissa Iden Rachel Schmidt Shirng-Wern Tsaih Carolyn Nakisige Martin Origa Jackson Orem Glenn Chang Jeremy Fan Ka Ming Nip Vahid Akbari Simon K. Chan James Hopkins Richard A. Moore Eric Chuah Karen L. Mungall Andrew J. Mungall
  • ... [+18 authors] ...,
  • Inanc Birol
  • Steven J.M. Jones
  • Janet S. Rader
  • Marco A. Marra
  • First Published December 5, 2024
Research

CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain" > Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain

  • James L. Shepherdson
  • David M. Granas
  • Jie Li
  • Zara Shariff
  • Stephen P. Plassmeyer
  • Alex S. Holehouse
  • Michael A. White
  • Barak A. Cohen
  • First Published September 25, 2024
Research

CRX have distinct cis-regulatory effects on enhancers and silencers in photoreceptors" > Pathogenic variants in CRX have distinct cis-regulatory effects on enhancers and silencers in photoreceptors

  • James L. Shepherdson
  • Ryan Z. Friedman
  • Yiqiao Zheng
  • Chi Sun
  • Inez Y. Oh
  • David M. Granas
  • Barak A. Cohen
  • Shiming Chen
  • Michael A. White
  • First Published February 14, 2024
Research

Functional characterization of enhancer activity during a long terminal repeat's evolution

  • Alan Y. Du
  • Xiaoyu Zhuo
  • Vasavi Sundaram
  • Nicholas O. Jensen
  • Hemangi G. Chaudhari
  • Nancy L. Saccone
  • Barak A. Cohen
  • Ting Wang
  • First Published October 3, 2022
Research

Genomic environments scale the activities of diverse core promoters

  • Clarice K.Y. Hong
  • Barak A. Cohen
  • First Published December 27, 2021
Research

cis-regulatory activity" > Local sequence features that influence AP-1 cis-regulatory activity

  • Hemangi G. Chaudhari
  • Barak A. Cohen
  • First Published January 5, 2018
Research

cis-regulation in embryonic stem cells" > Interactions between pluripotency factors specify cis-regulation in embryonic stem cells

  • Chris Fiore
  • Barak A. Cohen
  • First Published April 15, 2016
Research

Promoter-distal RNA polymerase II binding discriminates active from inactive CCAAT/ enhancer-binding protein beta binding sites

  • Daniel Savic
  • Brian S. Roberts
  • Julia B. Carleton
  • E. Christopher Partridge
  • Michael A. White
  • Barak A. Cohen
  • Gregory M. Cooper
  • Jason Gertz
  • Richard M. Myers
  • First Published October 20, 2015
Research

High-throughput functional testing of ENCODE segmentation predictions

  • Jamie C. Kwasnieski
  • Christopher Fiore
  • Hemangi G. Chaudhari
  • Barak A. Cohen
  • First Published July 17, 2014
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