Perspective
Short arms of human acrocentric chromosomes and the completion of the human genome sequence
- First Published March 31, 2022
Research
A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci
- First Published March 24, 2022
Research
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection
- First Published December 13, 2017
Research
Callithrix jacchus genome" > Discovery of a new repeat family in the Callithrix jacchus genome
- First Published February 25, 2016
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
Research
Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis
- First Published April 23, 2014
Resource
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
- First Published January 3, 2014