Research
Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia
- First Published April 15, 2025
Research
Integrating short-read and long-read single-cell RNA sequencing for comprehensive transcriptome profiling in mouse retina
- First Published March 6, 2025
Method
A deconvolution framework that uses single-cell sequencing plus a small benchmark data set for accurate analysis of cell type ratios in complex tissue samples
- First Published November 25, 2024
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
The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences
- First Published October 17, 2016
Method
Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes
- First Published February 24, 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