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Biology and Biochemistry

D-Index
54
Citations
154232
World Ranking
15318
National Ranking
6387

Overview

Mark A. DePristo is affiliated with BigHat Biosciences in the United States and conducts research primarily in the field of Biochemistry, Genetics, and Molecular Biology. Their specialization includes subfields such as Molecular Biology, Genetics, Spectroscopy, and Cancer Research.

Their research work spans multiple topics, focusing on:

  • Genomics and Phylogenetic Studies
  • Machine Learning in Bioinformatics
  • Advanced Proteomics Techniques and Applications
  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Cancer Genomics and Diagnostics

Mark A. DePristo has contributed to several key publications. Recent papers include:

  • Using deep learning to annotate the protein universe, 2022, Nature Biotechnology
  • Challenges of Accuracy in Germline Clinical Sequencing Data, 2021, JAMA

Frequent co-authors collaborating with Mark A. DePristo are:

  • Maxwell L. Bileschi
  • David Belanger
  • Drew Bryant
  • Theo Sanderson
  • Brandon Carter

The main publication venues for their work include:

  • Nature Biotechnology
  • JAMA

Best Publications

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

    Aaron Henrik McKenna;Matthew Hanna;Eric Banks;Andrey Sivachenko

  • A global reference for human genetic variation.

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • The variant call format and VCFtools

    Petr Danecek;Adam Auton;Goncalo Abecasis;Cornelis A. Albers

  • An integrated map of genetic variation from 1,092 human genomes

    Goncalo R Abecasis;Adam Auton;Lisa D Brooks

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

    Mark A DePristo;Eric Banks;Ryan Poplin;Kiran V Garimella

  • Analysis of protein-coding genetic variation in 60,706 humans

    Monkol Lek;Konrad J. Karczewski;Konrad J. Karczewski;Eric V. Minikel;Eric V. Minikel;Kaitlin E. Samocha

  • Table S2: Trans-factors and trinucleotide repeat instability Trans-factor

    Arturo López Castel;John D Cleary;Christopher E Pearson

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

    Geraldine A. Van der Auwera;Mauricio O. Carneiro;Christopher Hartl;Ryan Poplin

  • A guide to deep learning in healthcare.

    Andre Esteva;Alexandre Robicquet;Bharath Ramsundar;Volodymyr Kuleshov

  • Patterns and rates of exonic de novo mutations in autism spectrum disorders

    Benjamin M. Neale;Yan Kou;Li Liu;Avi Ma'Ayan

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

    Aaron M. Wenger;Paul Peluso;William J. Rowell;Pi-Chuan Chang

  • A polygenic burden of rare disruptive mutations in schizophrenia

    Shaun M Purcell;Jennifer L Moran;Menachem Fromer;Douglas Ruderfer

  • Darwinian evolution can follow only very few mutational paths to fitter proteins.

    Daniel M. Weinreich;Nigel F. Delaney;Mark A. DePristo;Daniel L. Hartl

  • Scaling accurate genetic variant discovery to tens of thousands of samples

    Poplin R;Ruano-Rubio;DePristo Ma;Fennell Tj

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

    Daniel G. MacArthur;Daniel G. MacArthur;Suganthi Balasubramanian;Adam Frankish;Ni Huang

  • Mapping copy number variation by population-scale genome sequencing

    Ryan E. Mills;Klaudia Walter;Chip Stewart;Robert E. Handsaker

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

    Ryan Poplin;Pi-Chuan Chang;David Alexander;Scott Schwartz

  • The genetic architecture of type 2 diabetes

    Christian Fuchsberger;Christian Fuchsberger;Jason A. Flannick;Jason A. Flannick;Tanya M. Teslovich;Anubha Mahajan

  • A framework for the interpretation of de novo mutation in human disease

    Kaitlin E Samocha;Elise B Robinson;Stephan J Sanders;Christine Stevens

  • Sublethal Antibiotic Treatment Leads to Multidrug Resistance via Radical-Induced Mutagenesis

    Michael A. Kohanski;Mark A. DePristo;James J. Collins

Frequent Co-Authors

David Altshuler
David Altshuler Harvard University
Mark J. Daly
Mark J. Daly Massachusetts General Hospital
Eric Banks
Eric Banks Broad Institute
Stacey Gabriel
Stacey Gabriel Broad Institute
Shaun Purcell
Shaun Purcell Harvard Medical School
Benjamin M. Neale
Benjamin M. Neale Harvard University
Jason Flannick
Jason Flannick Broad Institute
Andrew P. Morris
Andrew P. Morris University of Liverpool
Gonçalo R. Abecasis
Gonçalo R. Abecasis University of Michigan–Ann Arbor
Daniel G. MacArthur
Daniel G. MacArthur Garvan Institute of Medical Research

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