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Mark A. DePristo | Researchclopedia

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Mark A. DePristo

Google (United States)ORCID

37

Works

80,741

Citations

27

h-index

30

i10-index

Research Topics

Genomics and Phylogenetic Studies Genomics and Rare Diseases Protein Structure and Dynamics

Affiliations

Boston College2011–2011

Broad Institute2010–2017

Google (United States)2016–2022

Centre for Human Genetics2011–2011

Harvard University2005–2012

Top Works

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

Aaron McKenna,Matthew G. Hanna,et al.

201029,476 citations

RNA and protein synthesis mechanisms

Genomic variations and chromosomal abnormalities

The variant call format and VCFtools

Petr Danecek,Adam Auton,et al.

201117,284 citations

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

Mark A. DePristo,Eric Banks,et al.

201112,254 citations

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

Geraldine Van Der Auwera,Mauricio O. Carneiro,et al.

20137,124 citations

A guide to deep learning in healthcare

Andre Esteva,Alexandre Robicquet,et al.

20184,323 citations

Scaling accurate genetic variant discovery to tens of thousands of samples

Ryan Poplin,Valentín Ruano-Rubio,et al.

20172,074 citations

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Aaron M. Wenger,Paul Peluso,et al.

20191,890 citations

A universal SNP and small-indel variant caller using deep neural networks

Ryan Poplin,Pi-Chuan Chang,et al.

20181,788 citations

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Daniel G. MacArthur,Suganthi Balasubramanian,et al.

20121,320 citations