Method
Deep sequencing of short capped RNAs reveals novel families of noncoding RNAs
- First Published August 12, 2022
Research
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations
- First Published June 21, 2019
Research
Pathogenicity and selective constraint on variation near splice sites
- First Published December 26, 2018
Method
Detection of structural mosaicism from targeted and whole-genome sequencing data
- First Published August 30, 2017
Method
An extended set of yeast-based functional assays accurately identifies human disease mutations
- First Published March 14, 2016
Research
The frequent evolutionary birth and death of functional promoters in mouse and human
- First Published July 30, 2015
Method
Comparison of CAGE and RNA-seq transcriptome profiling using clonally amplified and single-molecule next-generation sequencing
- First Published March 27, 2014
Method
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders
- First Published December 19, 2013