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
Systematic characterization of A-to-I RNA editing hotspots in microRNAs across human cancers
- First Published April 14, 2017
Research
APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication
- First Published January 11, 2016
Method
Read clouds uncover variation in complex regions of the human genome
- First Published August 18, 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