Mark A. DePristo

80.7k citations

23 papers · 43.4k indexed · 8 hit papers · h-index 18

Molecular Biology top 0.05%
Genetics top 0.01%
Plant Science top 0.05%
Cancer Research top 0.1%
Ecology top 0.5%

Co-authors: Eric Banks Stacey Gabriel Kiran Garimella David Altshuler Kristian Cibulskis Aaron McKenna Mark J. Daly Andrey Sivachenko
Topics: Genomics and Phylogenetic Studies (10 papers)Genomics and Rare Diseases (7 papers)Protein Structure and Dynamics (6 papers)
Cited by: Genetics Health Informatics Cancer Research
Journals: Proceedings of the National Academy of Sciences JAMA Nature Medicine
Partner nations: United States United Kingdom Denmark

In The Last Decade

Mark A. DePristo

23 papers receiving 43.0k citations

Hit Papers

5 papers align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

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

2010 17.4k citations Aaron McKenna, Matthew G. Hanna et al. Genome Research profile →
The variant call format and VCFtools

2011 9.9k citations Petr Danecek, Adam Auton et al. Bioinformatics profile →
A framework for variation discovery and genotyping using next-generation DNA sequencing data

2011 7.3k citations Mark A. DePristo, Eric Banks et al. Nature Genetics profile →
From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

2013 4.3k citations Geraldine Van Der Auwera, Mauricio O. Carneiro et al. Current Protocols in Bioinformatics profile →
A guide to deep learning in healthcare

2018 2.4k citations Andre Esteva, Bharath Ramsundar et al. Nature Medicine profile →
A universal SNP and small-indel variant caller using deep neural networks

2018 757 citations Ryan Poplin, Pi-Chuan Chang et al. Nature Biotechnology profile →
Simultaneous determination of protein structure and dynamics

2005 582 citations Kresten Lindorff‐Larsen, Robert B. Best et al. Nature Cell Biology profile →
Using deep learning to annotate the protein universe

2022 164 citations Maxwell L. Bileschi, David Belanger et al. Nature Biotechnology profile →

Peers

Countries citing papers authored by Mark A. DePristo

Since Specialization

Citations

This map shows the geographic impact of Mark A. DePristo's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Mark A. DePristo with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Mark A. DePristo more than expected).

Fields of papers citing papers by Mark A. DePristo

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Mark A. DePristo. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Mark A. DePristo. The network helps show where Mark A. DePristo may publish in the future.

Co-authorship network of co-authors of Mark A. DePristo

This figure shows the co-authorship network connecting the top 25 collaborators of Mark A. DePristo. A scholar is included among the top collaborators of Mark A. DePristo based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Mark A. DePristo. Mark A. DePristo is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work	Indexed citations
1	Using deep learning to annotate the protein universebreakdown → 2022 ·Nature Biotechnology ·Maxwell L. Bileschi,David Belanger,Drew Bryant,Theo Sanderson,Brandon Carter,D. Sculley,Alex Bateman,Mark A. DePristo,Lucy J. Colwell	164
2	Challenges of Accuracy in Germline Clinical Sequencing Data 2021 ·JAMA ·Ryan Poplin,Justin M. Zook,Mark A. DePristo	5
3	A guide to deep learning in healthcarebreakdown → 2018 ·Nature Medicine ·Andre Esteva,(unknown),Bharath Ramsundar,Volodymyr Kuleshov,Mark A. DePristo,Katherine Chou,Claire Cui,Greg S. Corrado,Sebastian Thrun,Jeff Dean	2350
4	CrowdVariant: a crowdsourcing approach to classify copy number variants 2018 ·PubMed ·Peyton Greenside,Justin M. Zook,Marc Salit,Madeleine Cule,Ryan Poplin,Mark A. DePristo	2
5	A universal SNP and small-indel variant caller using deep neural networksbreakdown → 2018 ·Nature Biotechnology ·Ryan Poplin,Pi-Chuan Chang,David H. Alexander,Scott Schwartz,Thomas Colthurst,Alexander Ku,(unknown),(unknown),Nam V. Nguyen,Pegah Tootoonchi Afshar,Sam Gross,(unknown),Cory Y. McLean,Mark A. DePristo	757
6	Deep learning of genomic variation and regulatory network data 2018 ·Human Molecular Genetics ·Amalio Telenti,Christoph Lippert,Pi-Chuan Chang,Mark A. DePristo	46
7	A framework for the detection of de novo mutations in family-based sequencing data 2016 ·European Journal of Human Genetics ·Laurent C. Francioli,(unknown),Kiran Garimella,Menachem Fromer,Wigard P. Kloosterman,Kaitlin E. Samocha,Benjamin M. Neale,Mark J. Daly,Eric Banks,Mark A. DePristo,Paul IW de Bakker	16
8	From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipelinebreakdown → 2013 ·Current Protocols in Bioinformatics ·Geraldine Van Der Auwera,Mauricio O. Carneiro,Christopher Hartl,Ryan Poplin,Guillermo del Angel,Ami Levy‐Moonshine,(unknown),Khalid Shakir,David Roazen,(unknown),Eric Banks,Kiran Garimella,David Altshuler,Stacey Gabriel,Mark A. DePristo	4252
9	Pacific biosciences sequencing technology for genotyping and variation discovery in human data 2012 ·BMC Genomics ·Mauricio O. Carneiro,Carsten Russ,Michael Ross,Stacey Gabriel,Chad Nusbaum,Mark A. DePristo	166
10	A framework for variation discovery and genotyping using next-generation DNA sequencing databreakdown → 2011 ·Nature Genetics ·Mark A. DePristo,Eric Banks,Ryan Poplin,Kiran Garimella,Jared Maguire,Christopher Hartl,Anthony Philippakis,Guillermo del Angel,Manuel A. Rivas,(unknown),Aaron McKenna,Tim Fennell,Andrew Kernytsky,Andrey Sivachenko,Kristian Cibulskis,Stacey Gabriel,David Altshuler,Mark J. Daly	7268
11	The variant call format and VCFtoolsbreakdown → 2011 ·Bioinformatics ·Petr Danecek,Adam Auton,Gonçalo R. Abecasis,Cornelis A. Albers,Eric Banks,Mark A. DePristo,Robert E. Handsaker,Gerton Lunter,Gábor Marth,Stephen T. Sherry,Gil McVean,Richard Durbin,(unknown)	9936
12	The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing databreakdown → 2010 ·Genome Research ·Aaron McKenna,Matthew G. Hanna,Eric Banks,Andrey Sivachenko,Kristian Cibulskis,Andrew Kernytsky,Kiran Garimella,David Altshuler,Stacey Gabriel,Mark J. Daly,Mark A. DePristo	17384
13	Low-Complexity Regions in Plasmodium falciparum: Missing Links in the Evolution of an Extreme Genome 2010 ·Molecular Biology and Evolution ·Martine Zilversmit,Sarah K. Volkman,Mark A. DePristo,Dyann F. Wirth,Philip Awadalla,Daniel L. Hartl	51
14	The subtle benefits of being promiscuous: Adaptive evolution potentiated by enzyme promiscuity 2007 ·PubMed ·Mark A. DePristo	35
15	Conformer generation under restraints 2006 ·Current Opinion in Structural Biology ·Paul IW de Bakker,Nicholas Furnham,Tom L. Blundell,Mark A. DePristo	18
16	Simultaneous determination of protein structure and dynamicsbreakdown → 2005 ·Nature Cell Biology ·Kresten Lindorff‐Larsen,Robert B. Best,Mark A. DePristo,Christopher M. Dobson,Michele Vendruscolo	582
17	Discrete restraint‐based protein modeling and the Cα‐trace problem 2003 ·Protein Science ·Mark A. DePristo,Paul I. W. de Bakker,Reshma Shetty,Tom L. Blundell	20
18	Ab initio construction of polypeptide fragments: Efficient generation of accurate, representative ensembles 2003 ·Proteins Structure Function and Bioinformatics ·Mark A. DePristo,Paul I. W. de Bakker,Simon C. Lovell,Tom L. Blundell	111
19	Advantages of fine-grained side chain conformer libraries 2003 ·Protein Engineering Design and Selection ·Reshma Shetty,Paul I. W. de Bakker,Mark A. DePristo,Tom L. Blundell	25
20	being-in-the-world 2000 ·Mark A. DePristo,(unknown),(unknown)	5

About Mark A. DePristo

Mark A. DePristo is a scholar working on Health Informatics, Genetics and Molecular Biology, having authored 23 papers that have together received 43.4k indexed citations. Recurring topics across this work include Genomics and Phylogenetic Studies (10 papers), Genomics and Rare Diseases (7 papers) and Protein Structure and Dynamics (6 papers). The work is most often cited by research in Genetics (18.1k citations), Health Informatics (674 citations) and Cancer Research (5.3k citations). Mark A. DePristo has collaborated with scholars based in United States, United Kingdom and Denmark. Frequent co-authors include Eric Banks, Stacey Gabriel, Kiran Garimella, David Altshuler, Kristian Cibulskis, Aaron McKenna, Mark J. Daly, Andrey Sivachenko, Andrew Kernytsky and Matthew G. Hanna. Their work appears in journals such as Proceedings of the National Academy of Sciences, JAMA and Nature Medicine.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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