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Research

Long-read DNA and cDNA sequencing identify cancer-predisposing deep intronic variation in tumor-suppressor genes

  • Suleyman Gulsuner
  • Amal AbuRayyan
  • Jessica B. Mandell
  • Ming K. Lee
  • Greta V. Bernier
  • Barbara M. Norquist
  • Sarah B. Pierce
  • Mary-Claire King
  • Tom Walsh
  • First Published September 13, 2024
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
Insight/Outlook

Genomic contributions to Mendelian disease

  • Aravinda Chakravarti
  • First Published May 2, 2011
LETTER

Human embryonic stem cells have a unique epigenetic signature

  • Marina Bibikova
  • Eugene Chudin
  • Bonnie Wu
  • Lixin Zhou
  • Eliza Wickham Garcia
  • Ying Liu Soojung Shin Todd W. Plaia Jonathan M. Auerbach Dan E. Arking Rodolfo Gonzalez Jeremy Crook Bruce Davidson Thomas C. Schulz Allan Robins Aparna Khanna Peter Sartipy Johan Hyllner Padmavathy Vanguri Smita Savant-Bhonsale Alan K. Smith Aravinda Chakravarti Anirban Maitra
  • ... [+18 authors] ...,
  • Mahendra Rao
  • David L. Barker
  • Jeanne F. Loring
  • Jian-Bing Fan
  • First Published August 9, 2006
Methods

On the probability that a novel variant is a disease-causing mutation

  • Adele A. Mitchell
  • Aravinda Chakravarti
  • David J. Cutler
  • First Published June 17, 2005
Methods

Haplotype and Missing Data Inference in Nuclear Families

  • Shin Lin
  • Aravinda Chakravarti
  • David J. Cutler
  • First Published July 15, 2004
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