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Research

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

  • First Published May 14, 2026
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
Resource

An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes

  • First Published December 5, 2024
Research

Gaps and complex structurally variant loci in phased genome assemblies

  • First Published May 10, 2023
Research

The motif composition of variable number tandem repeats impacts gene expression

  • First Published April 10, 2023
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
Corrigendum

Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data

  • First Published January 2, 2018
Research

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

  • First Published December 13, 2017
Research

Discovery and genotyping of structural variation from long-read haploid genome sequence data

  • First Published November 28, 2016
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