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Method

Augmenting transcriptome annotations through the lens of splicing evolution

  • First Published May 29, 2026
Review

Hash functions in nucleotide sequence analysis

  • First Published May 4, 2026
Method

Accurate detection of tandem repeats from error-prone sequences with EquiRep

  • First Published August 21, 2025
Research

cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia" > Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia

  • First Published April 15, 2025
Method

Accurate assembly of circular RNAs with TERRACE

  • First Published July 26, 2024
Perspective

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

  • First Published March 31, 2022
In memoriam

Haig H. Kazazian, Jr. (1937–2022)

  • First Published March 21, 2022
Research

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

  • First Published December 13, 2017
Research

Yeast genetic interaction screen of human genes associated with amyotrophic lateral sclerosis: identification of MAP2K5 kinase as a potential drug target

  • First Published June 8, 2017
Method

An extended set of yeast-based functional assays accurately identifies human disease mutations

  • First Published March 14, 2016
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