Perspective
Notable challenges posed by long-read sequencing for the study of transcriptional diversity and genome annotation
- First Published March 3, 2025
Research
Gaps and complex structurally variant loci in phased genome assemblies
- First Published May 10, 2023
Resource
Discovery of high-confidence human protein-coding genes and exons by whole-genome PhyloCSF helps elucidate 118 GWAS loci
- First Published September 19, 2019
Method
Saturation analysis of ChIP-seq data for reproducible identification of binding peaks
- First Published July 10, 2015
Resource
Improved exome prioritization of disease genes through cross-species phenotype comparison
- First Published October 25, 2013
Research
HOXD13 mutations" > Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations
- First Published August 30, 2013
Method
Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome
- First Published September 5, 2012
Resource
GENCODE: The reference human genome annotation for The ENCODE Project
- First Published September 5, 2012