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In memoriam

Jim Watson (1928–2025): a genomics visionary

  • Aravinda Chakravarti
  • Evan E. Eichler
  • Anne C. Ferguson-Smith
  • Richard A. Gibbs
  • Eric D. Green
  • John R. Inglis
  • Kateryna D. Makova
  • Richard M. Myers
  • Hillary E. Sussman
  • First Published July 23, 2026
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

Genomic loci susceptible to systematic sequencing bias in clinical whole genomes

  • Timothy M. Freeman
  • Dennis Wang
  • Jason Harris
  • John C. Ambrose
  • Prabhu Arumugam
  • Emma L. Baple Marta Bleda Freya Boardman-Pretty Jeanne M. Boissiere Christopher R. Boustred Mark J. Caulfield Georgia C. Chan Clare E.H. Craig Louise C. Daugherty Anna de Burca Andrew Devereau Greg Elgar Rebecca E. Foulger Tom Fowler Pedro Furió-Tarí Joanne M. Hackett Dina Halai Angela Hamblin Shirley Henderson James E. Holman Tim J.P. Hubbard Kristina Ibáñez Rob Jackson Louise J. Jones Dalia Kasperaviciute Melis Kayikci Lea Lahnstein Kay Lawson Sarah E.A. Leigh Ivonne U.S. Leong Javier F. Lopez Fiona Maleady-Crowe Joanne Mason Ellen M. McDonagh Loukas Moutsianas Michael Mueller Nirupa Murugaesu Anna C. Need Chris A. Odhams Christine Patch Daniel Perez-Gil Dimitris Polychronopoulos John Pullinger Tahrima Rahim Augusto Rendon Pablo Riesgo-Ferreiro Tim Rogers Mina Ryten Kevin Savage Kushmita Sawant Richard H. Scott Afshan Siddiq Alexander Sieghart Damian Smedley Katherine R. Smith Alona Sosinsky William Spooner Helen E. Stevens Alexander Stuckey Razvan Sultana Ellen R.A. Thomas Simon R. Thompson Carolyn Tregidgo Arianna Tucci Emma Walsh Sarah A. Watters Matthew J. Welland
  • ... [+67 authors] ...,
  • Eleanor Williams
  • Katarzyna Witkowska
  • Suzanne M. Wood
  • Magdalena Zarowiecki
  • First Published March 10, 2020
Resource

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

  • Wouter De Coster
  • Peter De Rijk
  • Arne De Roeck
  • Tim De Pooter
  • Svenn D'Hert
  • Mojca Strazisar
  • Kristel Sleegers
  • Christine Van Broeckhoven
  • First Published June 11, 2019
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

Improved exome prioritization of disease genes through cross-species phenotype comparison

  • Peter N. Robinson
  • Sebastian Köhler
  • Anika Oellrich
  • Kai Wang
  • Christopher J. Mungall
  • Suzanna E. Lewis Nicole Washington Sebastian Bauer Dominik Seelow
  • ... [+4 authors] ...,
  • Peter Krawitz
  • Christian Gilissen
  • Melissa Haendel
  • Damian Smedley
  • First Published October 25, 2013
Insight/Outlook

Genomic contributions to Mendelian disease

  • Aravinda Chakravarti
  • First Published May 2, 2011
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