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M. DePristo · SciRah

Researcher profile · Semantic Scholar

M. DePristo

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M. DePristo — researcher profile on SciRah

h-index: 51
Works: 86
Citations: 110K

Most-cited papers

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
A. McKenna, Matthew G. Hanna, E. Banks, A. Sivachenko +7 more
2010Genome Research27K citations Open access
Semantic Scholar
A global reference for human genetic variation
Taras K. Oleksyk, Adam Gonçalo R. David M. Richard M. Gonçalo R. David R. Auton Abecasis Altshuler Durbin Abecasis Bentley C, Adam Gonçalo R. Auton Abecasis, Adam Auton +496 more
2015Nature17K citations Open access
Semantic Scholar
A framework for variation discovery and genotyping using next-generation DNA sequencing data
M. DePristo, E. Banks, R. Poplin, K. Garimella +14 more
2011Nature Genetics11K citations Open access
Semantic Scholar
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek, K. Karczewski, E. Minikel, K. Samocha +75 more
2015Nature9,704 citations Open access
Semantic Scholar
An integrated map of genetic variation from 1,092 human genomes
G. Abecasis, A. Auton, L. Brooks, M. DePristo +5 more
2012Nature8,046 citations Open access
Semantic Scholar
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline
G. A. Van der Auwera, M. Carneiro, C. Hartl, R. Poplin +11 more
2013Current Protocols in Bioinformatics6,801 citations Open access
Semantic Scholar
A guide to deep learning in healthcare
A. Esteva, Alexandre Robicquet, B. Ramsundar, Volodymyr Kuleshov +6 more
2019Nature Medicine4,938 citations
Semantic Scholar
References and Notes Supporting Online Material Materials and Methods Som Text Figs. S1 to S6 Tables S1 to S4 Gender Disparity in Liver Cancer Due to Sex Differences in Myd88-dependent Il-6 Production
C. Lemos, D. Meiklejohn, Nat Hartl, B. Lemos +19 more
1,867 citations
Semantic Scholar
Scaling accurate genetic variant discovery to tens of thousands of samples
R. Poplin, Valentín Ruano-Rubio, M. DePristo, T. Fennell +16 more
2017bioRxiv1,841 citations Open access
Semantic Scholar
Patterns and rates of exonic de novo mutations in autism spectrum disorders
B. Neale, Y. Kou, Li Liu, Avi Ma’ayan +55 more
2012Nature1,781 citations Open access
Semantic Scholar
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
A. Wenger, P. Peluso, W. Rowell, Pi-Chuan Chang +24 more
2019Nature Biotechnology1,596 citations Open access
Semantic Scholar
A universal SNP and small-indel variant caller using deep neural networks
R. Poplin, Pi-Chuan Chang, David H. Alexander, Scott Schwartz +10 more
2018Nature Biotechnology1,565 citations Open access
Semantic Scholar
A polygenic burden of rare disruptive mutations in schizophrenia
S. Purcell, J. Moran, M. Fromer, D. Ruderfer +28 more
2014Nature1,472 citations Open access
Semantic Scholar
Darwinian Evolution Can Follow Only Very Few Mutational Paths to Fitter Proteins
D. Weinreich, N. F. Delaney, M. DePristo, D. Hartl
2006Science1,401 citations
Semantic Scholar
A systematic survey of loss-of-function variants in human protein-coding genes
D. MacArthur, S. Balasubramanian, A. Frankish, N. Huang +47 more
2012Science1,247 citations Open access
Semantic Scholar
The genetic architecture of type 2 diabetes
C. Fuchsberger, J. Flannick, T. Teslovich, A. Mahajan +297 more
2016Nature1,074 citations Open access
Semantic Scholar
A framework for the interpretation of de novo mutation in human disease
K. Samocha, E. Robinson, Stephan J Sanders, Christine R. Stevens +22 more
2014Nature Genetics1,048 citations Open access
Semantic Scholar
Sub-lethal antibiotic treatment leads to multidrug resistance via radical-induced mutagenesis
M. Kohanski, M. DePristo, J. Collins
2010Molecules and Cells969 citations Open access
Semantic Scholar
Likelihood Ratios for Out-of-Distribution Detection
Jie Jessie Ren, Peter J. Liu, Emily Fertig, Jasper Snoek +4 more
2019Neural Information Processing Systems868 citations
Semantic Scholar
Supporting Online Material Materials and Methods Figs. S1 to S6 Tables S1 to S4 References and Notes Scaling up Digital Circuit Computation with Dna Strand Displacement Cascades
J. Draghi, T. Parsons, G. P. Wagner, J. Plotkin +36 more
835 citations
Semantic Scholar
Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia
K. Musunuru, J. Pirruccello, R. Do, G. Peloso +23 more
2010New England Journal of Medicine746 citations Open access
Semantic Scholar
Simultaneous determination of protein structure and dynamics
K. Lindorff-Larsen, R. Best, M. DePristo, C. Dobson +1 more
2005Nature688 citations
Semantic Scholar
Missense meanderings in sequence space: a biophysical view of protein evolution
M. DePristo, D. Weinreich, D. Hartl
2005Nature reviews genetics652 citations
Semantic Scholar
Variation in genome-wide mutation rates within and between human families
D. Conrad, Jonathan E. M. Keebler, M. DePristo, S. Lindsay +13 more
2011Nature Genetics605 citations Open access
Semantic Scholar
Multiple rare alleles at LDLR and APOA5 confer risk for early-onset myocardial infarction
R. Do, N. Stitziel, H. Won, A. B. Jørgensen +89 more
2014Nature428 citations Open access
Semantic Scholar
Using deep learning to annotate the protein universe
Maxwell L. Bileschi, David Belanger, Drew H. Bryant, Theo Sanderson +5 more
2019Nature Biotechnology313 citations Open access
Semantic Scholar
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders
Elaine T. Lim, S. Raychaudhuri, Stephan J Sanders, Christine R. Stevens +36 more
2013Neuron283 citations Open access
Semantic Scholar
Heterogeneity and inaccuracy in protein structures solved by X-ray crystallography.
M. DePristo, P. D. de Bakker, T. Blundell
2004Structure273 citations Open access
Semantic Scholar
Pacific biosciences sequencing technology for genotyping and variation discovery in human data
M. Carneiro, C. Russ, M. Ross, S. Gabriel +2 more
2012BMC Genomics266 citations Open access
Semantic Scholar
ContEst: estimating cross-contamination of human samples in next-generation sequencing data
K. Cibulskis, A. McKenna, T. Fennell, E. Banks +2 more
2011Bioinform.261 citations Open access
Semantic Scholar
Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease
Jacy R. Crosby, G. Peloso, P. Auer, D. Crosslin +82 more
2014New England Journal of Medicine253 citations Open access
Semantic Scholar
The functional spectrum of low-frequency coding variation
G. Marth, Fu-Li Yu, A. Indap, K. Garimella +33 more
2011Genome Biology211 citations Open access
Semantic Scholar
RNA profiles reveal signatures of future health and disease in pregnancy
Morten Rasmussen, Mitsu Reddy, Rory Nolan, J. Camunas-Soler +33 more
2022Nature161 citations Open access
Semantic Scholar
Next-generation sequencing for HLA typing of class I loci
R. Erlich, Xiao-Ming Jia, S. Anderson, E. Banks +7 more
2011BMC Genomics154 citations Open access
Semantic Scholar
Relation between native ensembles and experimental structures of proteins.
R. Best, K. Lindorff-Larsen, M. DePristo, M. Vendruscolo
2006Proceedings of the National Academy of Sciences of the United States of America153 citations Open access
Semantic Scholar
Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls
Li Liu, A. Sabo, B. Neale, U. Nagaswamy +33 more
2013PLoS Genetics141 citations Open access
Semantic Scholar
On the abundance, amino acid composition, and evolutionary dynamics of low-complexity regions in proteins.
M. DePristo, Martine M Zilversmit, D. Hartl
2006Gene138 citations
Semantic Scholar
Ab initio construction of polypeptide fragments: Efficient generation of accurate, representative ensembles
M. DePristo, P. D. de Bakker, S. Lovell, T. Blundell
2003Proteins: Structure, Function, and Bioinformatics134 citations
Semantic Scholar
Exome Aggregation Consortium
Monkol Lek, K. Karczewski, E. Minikel, K. Samocha +157 more
2016133 citations
Semantic Scholar
Ab initio construction of polypeptide fragments: Accuracy of loop decoy discrimination by an all‐atom statistical potential and the AMBER force field with the Generalized Born solvation model
P. D. de Bakker, M. DePristo, D. Burke, T. Blundell
2003Proteins: Structure, Function, and Bioinformatics130 citations
Semantic Scholar
The RNA degradosome: life in the fast lane of adaptive molecular evolution.
M. Marcaida, M. DePristo, V. Chandran, A. Carpousis +1 more
2006TIBS -Trends in Biochemical Sciences. Regular ed118 citations Open access
Semantic Scholar
Is one solution good enough?
N. Furnham, T. Blundell, M. DePristo, T. Terwilliger
2006Nature Structural &Molecular Biology114 citations
Semantic Scholar
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
Minal Çalışkan, Jessica X. Chong, Lawrence H. Uricchio, Rebecca L. Anderson +11 more
2011Human Molecular Genetics113 citations Open access
Semantic Scholar
Creating a universal SNP and small indel variant caller with deep neural networks
R. Poplin, Pi-Chuan Chang, David H. Alexander, Scott Schwartz +10 more
2016bioRxiv103 citations Open access
Semantic Scholar
Comparing strategies to fine map the association of common SNPs on chromosome 9p21 to Type 2 Diabetes and Myocardial Infarction
Jessica Shea, V. Agarwala, Anthony A. Philippakis, J. Maguire +11 more
2011Nature Genetics101 citations Open access
Semantic Scholar
Low-complexity regions in Plasmodium falciparum: missing links in the evolution of an extreme genome.
Martine M Zilversmit, S. Volkman, M. DePristo, D. Wirth +2 more
2010Molecular biology and evolution77 citations Open access
Semantic Scholar
Deep learning of genomic variation and regulatory network data.
A. Telenti, Christoph Lippert, Pi-Chuan Chang, M. DePristo
2018Human Molecular Genetics75 citations Open access
Semantic Scholar
Highly-accurate long-read sequencing improves variant detection and assembly of a human genome
A. Wenger, P. Peluso, W. Rowell, Pi-Chuan Chang +24 more
2019bioRxiv62 citations Open access
Semantic Scholar
A deep learning approach to pattern recognition for short DNA sequences
A. Busia, G. Dahl, Clara Fannjiang, David H. Alexander +5 more
2018bioRxiv61 citations Open access
Semantic Scholar
Mutational reversions during adaptive protein evolution.
M. DePristo, D. Hartl, D. Weinreich
2007Molecular biology and evolution59 citations
Semantic Scholar

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