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In memoriam

C. Thomas Caskey (1938–2022)

  • Richard A. Gibbs
  • Aravinda Chakravarti
  • Evan E. Eichler
  • Eric D. Green
  • Richard M. Myers
  • Anne C. Ferguson-Smith
  • Kateryna D. Makova
  • Hillary E. Sussman
  • First Published February 17, 2022
In memoriam

Deborah A. Nickerson (1954 –2021)

  • Aravinda Chakravarti
  • Evan E. Eichler
  • Richard A. Gibbs
  • Eric D. Green
  • Richard M. Myers
  • Hillary E. Sussman
  • First Published January 24, 2022
Research

RET regulatory code is disrupted in Hirschsprung disease" > A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease

  • Sumantra Chatterjee
  • Kameko M. Karasaki
  • Lauren E. Fries
  • Ashish Kapoor
  • Aravinda Chakravarti
  • First Published November 15, 2021
Method

Sequence-based correction of barcode bias in massively parallel reporter assays

  • Dongwon Lee
  • Ashish Kapoor
  • Changhee Lee
  • Michael Mudgett
  • Michael A. Beer
  • Aravinda Chakravarti
  • First Published July 20, 2021
Method

cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants" > Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants

  • Dongwon Lee
  • Ashish Kapoor
  • Alexias Safi
  • Lingyun Song
  • Marc K. Halushka
  • Gregory E. Crawford
  • Aravinda Chakravarti
  • First Published August 23, 2018
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
Research

Characteristics of de novo structural changes in the human genome

  • Wigard P. Kloosterman
  • Laurent C. Francioli
  • Fereydoun Hormozdiari
  • Tobias Marschall
  • Jayne Y. Hehir-Kwa
  • Abdel Abdellaoui Eric-Wubbo Lameijer Matthijs H. Moed Vyacheslav Koval Ivo Renkens Markus J. van Roosmalen Pascal Arp Lennart C. Karssen Bradley P. Coe Robert E. Handsaker Eka D. Suchiman Edwin Cuppen Djie Tjwan Thung Mitch McVey Michael C. Wendl André Uitterlinden Cornelia M. van Duijn Morris A. Swertz Cisca Wijmenga GertJan B. van Ommen P. Eline Slagboom Dorret I. Boomsma Alexander Schönhuth Evan E. Eichler Paul I.W. de Bakker Kai Ye Victor Guryev André Uitterlinden Cornelia M. van Duijn Morris A. Swertz Cisca Wijmenga GertJan B. van Ommen P. Eline Slagboom Dorret I. Boomsma Alexander Schönhuth
  • ... [+35 authors] ...,
  • Evan E. Eichler
  • Paul I.W. de Bakker
  • Kai Ye
  • Victor Guryev
  • First Published April 16, 2015
Resource

MuSiC: Identifying mutational significance in cancer genomes

  • Nathan D. Dees
  • Qunyuan Zhang
  • Cyriac Kandoth
  • Michael C. Wendl
  • William Schierding
  • Daniel C. Koboldt Thomas B. Mooney Matthew B. Callaway
  • ... [+3 authors] ...,
  • David Dooling
  • Elaine R. Mardis
  • Richard K. Wilson
  • Li Ding
  • First Published July 3, 2012
Insight/Outlook

Genomic contributions to Mendelian disease

  • Aravinda Chakravarti
  • First Published May 2, 2011
Research

XIST locus" > Comparative analysis of the primate X-inactivation center region and reconstruction of the ancestral primate XIST locus

  • Julie E. Horvath
  • Christina B. Sheedy
  • Stephanie L. Merrett
  • Abdoulaye Banire Diallo
  • David L. Swofford
  • NISC Comparative Sequencing Program
  • Eric D. Green
  • Huntington F. Willard
  • First Published April 25, 2011
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