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Author Details

Heidi J Sofia
National Human Genome Research Institute
1993
27
21
PMIDPaper TitleJournal TitlePublished Year
36350676FAVOR: functional annotation of variants online resource and annotator for variation across the human genome.Nucleic Acids Res2023
36350676FAVOR: functional annotation of variants online resource and annotator for variation across the human genome.Nucleic Acids Res2023
35444317The Human Pangenome Project: a global resource to map genomic diversity.Nature2022
35444317The Human Pangenome Project: a global resource to map genomic diversity.Nature2022
34464590Ultrafast homomorphic encryption models enable secure outsourcing of genotype imputation.Cell Syst2021
34464590Ultrafast homomorphic encryption models enable secure outsourcing of genotype imputation.Cell Syst2021
34820659The Data Use Ontology to streamline responsible access to human biomedical datasets.Cell Genom2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
34820659The Data Use Ontology to streamline responsible access to human biomedical datasets.Cell Genom2021
32918447SCOR: A secure international informatics infrastructure to investigate COVID-19.J Am Med Inform Assoc2020
32918447SCOR: A secure international informatics infrastructure to investigate COVID-19.J Am Med Inform Assoc2020
32693816iDASH secure genome analysis competition 2018: blockchain genomic data access logging, homomorphic encryption on GWAS, and DNA segment searching.BMC Med Genomics2020
32693816iDASH secure genome analysis competition 2018: blockchain genomic data access logging, homomorphic encryption on GWAS, and DNA segment searching.BMC Med Genomics2020
29596782Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines.Cell Syst2018
29596782Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines.Cell Syst2018
29537396Simplifying research access to genomics and health data with Library Cards.Sci Data2018
29537396Simplifying research access to genomics and health data with Library Cards.Sci Data2018
29263842A community effort to protect genomic data sharing, collaboration and outsourcing.NPJ Genom Med2017
28339683Addressing Beacon re-identification attacks: quantification and mitigation of privacy risks.J Am Med Inform Assoc2017
29263842A community effort to protect genomic data sharing, collaboration and outsourcing.NPJ Genom Med2017
28339683Addressing Beacon re-identification attacks: quantification and mitigation of privacy risks.J Am Med Inform Assoc2017
27733153Protecting genomic data analytics in the cloud: state of the art and opportunities.BMC Med Genomics2016
26536169Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma.N Engl J Med2016
27733153Protecting genomic data analytics in the cloud: state of the art and opportunities.BMC Med Genomics2016
26536169Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma.N Engl J Med2016
26061751Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.N Engl J Med2015
26061751Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.N Engl J Med2015
23634996Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.N Engl J Med2013
23634996Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.N Engl J Med2013
19737356The third pillar of bacterial signal transduction: classification of the extracytoplasmic function (ECF) sigma factor protein family.Mol Microbiol2009
19737356The third pillar of bacterial signal transduction: classification of the extracytoplasmic function (ECF) sigma factor protein family.Mol Microbiol2009
18541059BioGraphE: high-performance bionetwork analysis using the Biological Graph Environment.BMC Bioinformatics2008
19636916Backbone 1H, 13C, and 15N NMR assignments for the Cyanothece 51142 protein cce_0567: a protein associated with nitrogen fixation in the DUF683 family.Biomol NMR Assign2008
18541059BioGraphE: high-performance bionetwork analysis using the Biological Graph Environment.BMC Bioinformatics2008
19636916Backbone 1H, 13C, and 15N NMR assignments for the Cyanothece 51142 protein cce_0567: a protein associated with nitrogen fixation in the DUF683 family.Biomol NMR Assign2008
17803943A conserved structural module regulates transcriptional responses to diverse stress signals in bacteria.Mol Cell2007
17803943A conserved structural module regulates transcriptional responses to diverse stress signals in bacteria.Mol Cell2007
14638413Phylogeny of the bacterial superfamily of Crp-Fnr transcription regulators: exploiting the metabolic spectrum by controlling alternative gene programs.FEMS Microbiol Rev2003
14638413Phylogeny of the bacterial superfamily of Crp-Fnr transcription regulators: exploiting the metabolic spectrum by controlling alternative gene programs.FEMS Microbiol Rev2003
11222759Radical SAM, a novel protein superfamily linking unresolved steps in familiar biosynthetic pathways with radical mechanisms: functional characterization using new analysis and information visualization methods.Nucleic Acids Res2001
11278849beta -Amyloid peptide-induced apoptosis regulated by a novel protein containing a g protein activation module.J Biol Chem2001
11222759Radical SAM, a novel protein superfamily linking unresolved steps in familiar biosynthetic pathways with radical mechanisms: functional characterization using new analysis and information visualization methods.Nucleic Acids Res2001
11278849beta -Amyloid peptide-induced apoptosis regulated by a novel protein containing a g protein activation module.J Biol Chem2001
9722640The complete DNA sequence and analysis of the large virulence plasmid of Escherichia coli O157:H7.Nucleic Acids Res1998
9722640The complete DNA sequence and analysis of the large virulence plasmid of Escherichia coli O157:H7.Nucleic Acids Res1998
7610040Analysis of the Escherichia coli genome VI: DNA sequence of the region from 92.8 through 100 minutes.Nucleic Acids Res1995
7610040Analysis of the Escherichia coli genome VI: DNA sequence of the region from 92.8 through 100 minutes.Nucleic Acids Res1995
7878731A new family of peptidyl-prolyl isomerases.Trends Biochem Sci1995
7878731A new family of peptidyl-prolyl isomerases.Trends Biochem Sci1995
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Collaborators

Carnegie Mellon University, The University of Texas Health Science Center at Houston, University of California San Diego
Co-authored papers 6
Co-authored papers 5
Escola de Administracao de Empresas - FGV, Stanford University, University of California San Diego, University of Sao Paulo, Yale School of Medicine
Co-authored papers 5
EPFL.
Co-authored papers 4
Scarab Genomics LLC
Co-authored papers 4
Indiana University
Co-authored papers 4
Montreal Neurological Institute, McGill University
Co-authored papers 4
Indiana University Bloomington
Co-authored papers 4
Genomics Institute, University of California Santa Cruz
Co-authored papers 4
University of Wisconsin
Co-authored papers 4
Present address: Dxige Research Inc.
Co-authored papers 3
The University of Texas Health Science Center at Houston
Co-authored papers 3
University of British Columbia
Co-authored papers 3
Co-authored papers 3
University of British Columbia
Co-authored papers 3
Broad Institute of the Massachusetts Institute of Technology and Harvard
Co-authored papers 3
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 3
Foundation Medicine Inc.
Co-authored papers 3
University of Leicester
Co-authored papers 3
Baylor College of Medicine
Co-authored papers 3
Broad Institute of MIT and Harvard
Co-authored papers 3
Co-authored papers 3
European Bioinformatics Institute
Co-authored papers 3
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European Bioinformatics Institute
Co-authored papers 3
Facebook AI Research
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Nationwide Children's Hospital
Co-authored papers 3
Canada British Columbia Cancer Research Centre, University of British Columbia
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