Research
Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T
- First Published March 17, 2025
Research
Rearrangements of viral and human genomes at human papillomavirus integration events and their allele-specific impacts on cancer genome regulation
- First Published December 5, 2024
Research
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection
- First Published December 13, 2017
Method
Read clouds uncover variation in complex regions of the human genome
- First Published August 18, 2015
Method
Discovery of recurrent structural variants in nasopharyngeal carcinoma
- First Published November 8, 2013
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
Method
Ubiquitous heterogeneity and asymmetry of the chromatin environment at regulatory elements
- First Published September 5, 2012
Resource
ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia
- First Published September 5, 2012