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Top Publications

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Genome Research201029,447 citations
A global reference for human genetic variation
Nature201519,538 citations
A global reference for human genetic variation
Nature201519,538 citations
The variant call format and VCFtools
Bioinformatics201117,263 citations
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Nature Genetics201112,243 citations
Analysis of protein-coding genetic variation in 60,706 humans
Nature201610,243 citations
The mutational constraint spectrum quantified from variation in 141,456 humans
Nature20209,856 citations