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
Sequence-based correction of barcode bias in massively parallel reporter assays
- First Published July 20, 2021
Method
Ancestry-agnostic estimation of DNA sample contamination from sequence reads
- First Published January 24, 2020
Method
Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants
- First Published August 23, 2018
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