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
Resource
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
- First Published April 10, 2017
Method
Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomes
- First Published December 16, 2016
Research
The landscape of genomic imprinting across diverse adult human tissues
- First Published May 7, 2015
Research
The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes
- First Published March 11, 2013
Resource
Assemblathon 1: A competitive assessment of de novo short read assembly methods
- First Published September 16, 2011
Method
Revealing the genetic structure of a trait by sequencing a population under selection
- First Published March 21, 2011