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Research

Characterizing cytosine methylation of polymorphic transposable element insertions using the human pangenome resources

  • First Published May 14, 2026
Method

Highly accurate assembly polishing with DeepPolisher

  • First Published May 19, 2025
Research

CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain" > Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain

  • First Published September 25, 2024
Research

CRX have distinct cis-regulatory effects on enhancers and silencers in photoreceptors" > Pathogenic variants in CRX have distinct cis-regulatory effects on enhancers and silencers in photoreceptors

  • First Published February 14, 2024
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

Long-read RNA sequencing reveals widespread sex-specific alternative splicing in threespine stickleback fish

  • First Published June 15, 2021
Resource

A chromosome-level assembly of the Atlantic herring genome—detection of a supergene and other signals of selection

  • First Published October 24, 2019
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