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In memoriam

C. Thomas Caskey (1938–2022)

  • First Published February 17, 2022
In memoriam

Deborah A. Nickerson (1954 –2021)

  • 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

  • First Published November 15, 2021
Method

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

  • First Published July 20, 2021
Resource

Integrated annotations and analyses of small RNA–producing loci from 47 diverse plants

  • First Published March 16, 2020
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

  • First Published August 23, 2018
Resource

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

  • First Published April 10, 2017
Method

Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomes

  • First Published December 16, 2016
Resource

Assemblathon 1: A competitive assessment of de novo short read assembly methods

  • First Published September 16, 2011
Insight/Outlook

Genomic contributions to Mendelian disease

  • First Published May 2, 2011
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