Resource
Discordant calls across genotype discovery approaches elucidate variants with systematic errors
- First Published May 30, 2023
Resource
Mitochondrial DNA variation across 56,434 individuals in gnomAD
- First Published January 24, 2022
Research
Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides
- First Published June 1, 2018
Method
Co-expression networks reveal the tissue-specific regulation of transcription and splicing
- First Published October 11, 2017
Method
Read clouds uncover variation in complex regions of the human genome
- First Published August 18, 2015
Research
The landscape of genomic imprinting across diverse adult human tissues
- First Published May 7, 2015
Method
Parente2: a fast and accurate method for detecting identity by descent
- First Published October 1, 2014
Research
The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes
- First Published March 11, 2013