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Method

Highly accurate assembly polishing with DeepPolisher

  • First Published May 19, 2025
Research

Gaps and complex structurally variant loci in phased genome assemblies

  • First Published May 10, 2023
Method

A complete pedigree-based graph workflow for rare candidate variant analysis

  • First Published April 28, 2022
Research

A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci

  • First Published March 24, 2022
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
Research

Positive selection in noncoding genomic regions of vocal learning birds is associated with genes implicated in vocal learning and speech functions in humans

  • First Published October 19, 2021
Method

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

  • 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

  • First Published August 23, 2018
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