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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

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

  • Michael A. Eberle
  • Epameinondas Fritzilas
  • Peter Krusche
  • Morten Källberg
  • Benjamin L. Moore
  • Mitchell A. Bekritsky Zamin Iqbal Han-Yu Chuang Sean J. Humphray Aaron L. Halpern
  • ... [+5 authors] ...,
  • Semyon Kruglyak
  • Elliott H. Margulies
  • Gil McVean
  • David R. Bentley
  • First Published November 30, 2016
Research

Genome-wide DNA methylation profiles in hematopoietic stem and progenitor cells reveal overrepresentation of ETS transcription factor binding sites

  • Amber Hogart
  • Jens Lichtenberg
  • Subramanian S. Ajay
  • Stacie Anderson
  • Elliott H. Margulies
  • David M. Bodine
  • First Published June 8, 2012
Method

Accurate and comprehensive sequencing of personal genomes

  • Subramanian S. Ajay
  • Stephen C.J. Parker
  • Hatice Ozel Abaan
  • Karin V. Fuentes Fajardo
  • Elliott H. Margulies
  • First Published July 19, 2011
Insight/Outlook

Genomic contributions to Mendelian disease

  • Aravinda Chakravarti
  • First Published May 2, 2011
Method

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

  • Jamie K. Teer
  • Lori L. Bonnycastle
  • Peter S. Chines
  • Nancy F. Hansen
  • Natsuyo Aoyama
  • Amy J. Swift Hatice Ozel Abaan Thomas J. Albert Elliott H. Margulies
  • ... [+4 authors] ...,
  • Eric D. Green
  • Francis S. Collins
  • James C. Mullikin
  • Leslie G. Biesecker
  • First Published September 1, 2010
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