Concepedia

Mark A. DePristo

MA

Statistics

Publications

26

Citations

77.7K

H-Index

24

Active since

2000

Affiliations

Broad Institute(Current)

Harvard University

University of Cambridge

Google (United States)

Centre for Human Genetics

Mark A. DePristo is an author at Broad Institute specializing in life sciences, genomics, and bioinformatics.

ORCID

Publications per year

2000–2022

26

Publications

26

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

, , +17

The variant call format and VCFtools

Petr Danecek, Adam Auton, Gonçalo R. Abecasis et al. · Bioinformatics · 2011 · 17.8K citations · Full text

, , +17

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

, , +14

From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

Géraldine Van der Auwera, Mauricio O. Carneiro, Christopher Hartl et al. · Current Protocols in Bioinformatics · 2013 · 7.2K citations

, , +14

Scaling accurate genetic variant discovery to tens of thousands of samples

Ryan Poplin, Valentín Ruano-Rubio, Mark A. DePristo et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2017 · 2.1K citations · Full text

, , +17

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