Research
Epigenetic drift score captures directional methylation variability and links aging to transcriptional, metabolic, and genetic alterations
- First Published August 1, 2025
Resource
KCNQ4" > Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4
- First Published June 27, 2022
Perspective
Short arms of human acrocentric chromosomes and the completion of the human genome sequence
- First Published March 31, 2022
Research
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection
- First Published December 13, 2017
Research
APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication
- First Published January 11, 2016
Method
A probabilistic method for testing and estimating selection differences between populations
- First Published October 13, 2015
Research
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders
- First Published April 27, 2015
Resource
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
- First Published January 3, 2014