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Research

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

  • First Published May 14, 2026
Research

Selection and thermostability suggest G-quadruplexes are novel functional elements of the human genome

  • First Published June 29, 2021
Research

Long-read sequencing technology indicates genome-wide effects of non-B DNA on polymerization speed and error rate

  • First Published November 6, 2018
Research

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies" > BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

  • First Published January 5, 2015
Research

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

  • First Published June 19, 2013
Research

The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes

  • First Published March 11, 2013
Research

A genome-wide analysis of common fragile sites: What features determine chromosomal instability in the human genome?

  • First Published March 28, 2012
Research

A matter of life or death: How microsatellites emerge in and vanish from the human genome

  • First Published October 12, 2011
Research

The (r)evolution of SINE versus LINE distributions in primate genomes: Sex chromosomes are important

  • First Published March 10, 2010
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