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Method

OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities

  • Siavash Raeisi Dehkordi
  • Zhaoyang Jia
  • Joey Estabrook
  • Jen Hauenstein
  • Neil Miller
  • Naz Güleray-Lafci Jürgen Neesen Alex Hastie
  • ... [+3 authors] ...,
  • Alka Chaubey
  • Andy Wing Chun Pang
  • Paul Dremsek
  • Vineet Bafna
  • First Published November 14, 2025
Method

Multicondition and multimodal temporal profile inference during mouse embryonic development

  • Ran Zhang
  • Chengxiang Qiu
  • Galina N. Filippova
  • Gang Li
  • Jay Shendure
  • Jean-Philippe Vert
  • Xinxian Deng
  • William Stafford Noble
  • Christine M. Disteche
  • First Published August 14, 2025
Method

CoRAL accurately resolves extrachromosomal DNA genome structures with long-read sequencing

  • Kaiyuan Zhu
  • Matthew G. Jones
  • Jens Luebeck
  • Xinxin Bu
  • Hyerim Yi
  • King L. Hung Ivy Tsz-Lo Wong
  • ... [+2 authors] ...,
  • Shu Zhang
  • Paul S. Mischel
  • Howard Y. Chang
  • Vineet Bafna
  • First Published July 9, 2024
Resource

Caenorhabditis elegans nematodes" > Comprehensive characterization of tissue-specific chromatin accessibility in L2 Caenorhabditis elegans nematodes

  • Timothy J. Durham
  • Riza M. Daza
  • Louis Gevirtzman
  • Darren A. Cusanovich
  • Olubusayo Bolonduro
  • William Stafford Noble
  • Jay Shendure
  • Robert H. Waterston
  • First Published April 22, 2021
Research

Genome-wide strand asymmetry in massively parallel reporter activity favors genic strands

  • Brian S. Roberts
  • E. Christopher Partridge
  • Bryan A. Moyers
  • Vikram Agarwal
  • Kimberly M. Newberry
  • Beth K. Martin
  • Jay Shendure
  • Richard M. Myers
  • Gregory M. Cooper
  • First Published April 20, 2021
Research

Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology" > Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology

  • Adebola Enikanolaiye
  • Julie Ruston
  • Rong Zeng
  • Christine Taylor
  • Marijke Schrock
  • Christie M. Buchovecky
  • Jay Shendure
  • Elif Acar
  • Monica J. Justice
  • First Published April 21, 2020
Research

Deficiency of nucleotide excision repair is associated with mutational signature observed in cancer

  • Myrthe Jager
  • Francis Blokzijl
  • Ewart Kuijk
  • Johanna Bertl
  • Maria Vougioukalaki
  • Roel Janssen Nicolle Besselink Sander Boymans Joep de Ligt Jakob Skou Pedersen
  • ... [+5 authors] ...,
  • Jan Hoeijmakers
  • Joris Pothof
  • Ruben van Boxtel
  • Edwin Cuppen
  • First Published June 20, 2019
Method

Targeted genotyping of variable number tandem repeats with adVNTR

  • Mehrdad Bakhtiari
  • Sharona Shleizer-Burko
  • Melissa Gymrek
  • Vikas Bansal
  • Vineet Bafna
  • First Published October 23, 2018
Method

HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies

  • Peter Edge
  • Vineet Bafna
  • Vikas Bansal
  • First Published December 9, 2016
Research

A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity

  • Fumitaka Inoue
  • Martin Kircher
  • Beth Martin
  • Gregory M. Cooper
  • Daniela M. Witten
  • Michael T. McManus
  • Nadav Ahituv
  • Jay Shendure
  • First Published November 9, 2016
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