Research
Epigenetic characterization of pseudogenes across human tissues
- First Published April 15, 2026
Resource
A map of enhancer regions in primary human neural progenitor cells using capture STARR-seq
- First Published July 11, 2025
Research
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations
- First Published June 21, 2019
Research
Pathogenicity and selective constraint on variation near splice sites
- First Published December 26, 2018
Research
Mus caroli and Mus pahari genomes" > Repeat associated mechanisms of genome evolution and function revealed by the Mus caroli and Mus pahari genomes
- First Published March 21, 2018
Method
Detection of structural mosaicism from targeted and whole-genome sequencing data
- First Published August 30, 2017
Research
One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin
- First Published February 24, 2017
Method
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders
- First Published December 19, 2013
Research
Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division
- First Published September 11, 2013