Research
Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia
- First Published April 15, 2025
Perspective
Short arms of human acrocentric chromosomes and the completion of the human genome sequence
- First Published March 31, 2022
Method
Ancestry-agnostic estimation of DNA sample contamination from sequence reads
- First Published January 24, 2020
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
Research
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders
- First Published April 27, 2015
Method
An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data
- First Published April 16, 2015
Resource
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
- First Published January 3, 2014
Research
The influence of genomic context on mutation patterns in the human genome inferred from rare variants
- First Published August 29, 2013