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Research

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

  • First Published May 14, 2026
Research

Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications

  • First Published February 11, 2026
Research

Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T

  • First Published March 17, 2025
Research

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

  • First Published November 1, 2024
Research

Gaps and complex structurally variant loci in phased genome assemblies

  • First Published May 10, 2023
Research

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

  • First Published March 24, 2022
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
Research

SARS-CoV-2 genomic diversity and the implications for qRT-PCR diagnostics and transmission

  • First Published February 18, 2021
Research

Complex mosaic structural variations in human fetal brains

  • First Published October 29, 2020
Research

Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing

  • First Published September 4, 2020
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