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Author Details

Reece K Hart
Broad Institute of MIT and Harvard
1991
17
12
PMIDPaper TitleJournal TitlePublished Year
36706920Characterization of ion release from a novel biomaterial, Molybdenum-47.5Rhenium, in physiologic environments.Spine J2023
36540993Development and application of a computable genotype model in the GA4GH Variation Representation Specification.Pac Symp Biocomput2023
35311178The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification.Cell Genom2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
33270643SeqRepo: A system for managing local collections of biological sequences.PLoS One2020
31160585Lysine 68 acetylation directs MnSOD as a tetrameric detoxification complex versus a monomeric tumor promoter.Nat Commun2019
28967166VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.Hum Mutat2018
30129167hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update.Hum Mutat2018
26791113Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society.Hum Mutat2016
27814769Somatic cancer variant curation and harmonization through consensus minimum variant level data.Genome Med2016
26931183HGVS Recommendations for the Description of Sequence Variants: 2016 Update.Hum Mutat2016
25273102A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature.Bioinformatics2015
24667040An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.Genome Biol2014
19209718Unison: an integrated platform for computational biology discovery.Pac Symp Biocomput2009
16888646Functional characterization of the Bcl-2 gene family in the zebrafish.Cell Death Differ2006
11108480Systematic and fully automated identification of protein sequence patterns.J Comput Biol2000
1685481Isolation, localization, and physical mapping of a highly polymorphic locus on human chromosome 11q13.Genomics1991
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Collaborators

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Iowa State University, Mayo Clinic, Nationwide Children's Hospital, The Ohio State University College of Medicine, University of Iowa, Washington University in Saint Louis
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University of Zurich
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University of Washington Medical Center
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The Walter and Eliza Hall Institute of Medical Research
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McGill University
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Washington University
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