Research
Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing
- First Published March 25, 2026
Research
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps
- First Published November 1, 2024
Research
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
- First Published October 29, 2024
Research
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
- First Published October 29, 2024
Resource
Precision environmental health monitoring by longitudinal exposome and multi-omics profiling
- First Published June 6, 2022
Method
Microfluidic isoform sequencing shows widespread splicing coordination in the human transcriptome
- First Published December 1, 2017
Method
Linking disease associations with regulatory information in the human genome
- First Published September 5, 2012
Resource
Annotation of functional variation in personal genomes using RegulomeDB
- First Published September 5, 2012
Resource
Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factors
- First Published September 5, 2012
Resource
ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia
- First Published September 5, 2012