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Author Details

Gustavo Glusman
Institute for Systems Biology
1988
102
43
PMIDPaper TitleJournal TitlePublished Year
36125173Biolink Model: A universal schema for knowledge graphs in clinical, biomedical, and translational science.Clin Transl Sci2022
35611543Progress toward a universal biomedical data translator.Clin Transl Sci2022
35789587Quality control of large genome datasets.HGG Adv2022
34149819Editorial: Personal Genomes: Accessing, Sharing, and Interpretation.Front Genet2021
33619379Gut microbiome pattern reflects healthy ageing and predicts survival in humans.Nat Metab2021
33731896Author Correction: Gut microbiome pattern reflects healthy ageing and predicts survival in humans.Nat Metab2021
31618575Measurement of Organ-Specific and Acute-Phase Blood Protein Levels in Early Lyme Disease.J Proteome Res2020
32814038Atlas of Transcription Factor Binding Sites from ENCODE DNase Hypersensitivity Data across 27 Tissue Types.Cell Rep2020
31114611NormExpression: An R Package to Normalize Gene Expression Data Using Evaluated Methods.Front Genet2019
31676459Sex, obesity, diabetes, and exposure to particulate matter among patients with severe asthma: Scientific insights from a comparative analysis of open clinical data sources during a five-day hackathon.J Biomed Inform2019
31450660Opportunities and Challenges in Interpreting and Sharing Personal Genomes.Genes (Basel)2019
31074176Clinical Data: Sources and Types, Regulatory Constraints, Applications.Clin Transl Sci2019
30833390Genomic and molecular characterization of preterm birth.Proc Natl Acad Sci U S A2019
29700072Taking Systems Medicine to Heart.Circ Res2018
30080845Reply to "Precision medicine in the clouds".Nat Biotechnol2018
29996771Novel metrics for quantifying bacterial genome composition skews.BMC Genomics2018
29889842Whole genome sequence and comparative analysis of Borrelia burgdorferi MM1.PLoS One2018
30291356Author Correction: Parent-of-origin-specific signatures of de novo mutations.Nat Genet2018
30287784Genotype Fingerprints Enable Fast and Private Comparison of Genetic Testing Results for Research and Direct-to-Consumer Applications.Genes (Basel)2018
28736497Differences between the genomes of lymphoblastoid cell lines and blood-derived samples.Adv Genomics Genet2017
28448578Evolutionary history of Tibetans inferred from whole-genome sequencing.PLoS Genet2017
29254494Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework.Genome Med2017
29018478Ultrafast Comparison of Personal Genomes via Precomputed Genome Fingerprints.Front Genet2017
28715306A Data-Rich Longitudinal Wellness Study for the Digital Age: Fixing a Broken Medical System Requires Data About Each Patient.IEEE Pulse2017
28714965A wellness study of 108 individuals using personal, dense, dynamic data clouds.Nat Biotechnol2017
27081563Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals.Hum Genome Var2016
27322544Parent-of-origin-specific signatures of de novo mutations.Nat Genet2016
27494614Predictive Big Data Analytics: A Study of Parkinson's Disease Using Large, Complex, Heterogeneous, Incongruent, Multi-Source and Incomplete Observations.PLoS One2016
27575953Identification of Organ-Enriched Protein Biomarkers of Acute Liver Injury by Targeted Quantitative Proteomics of Blood in Acetaminophen- and Carbon-Tetrachloride-Treated Mouse Models and Acetaminophen Overdose Patients.J Proteome Res2016
26849520Personalized nutrition through big data.Nat Biotechnol2016
25285920A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.J Invest Dermatol2015
26547235Crowdsourced direct-to-consumer genomic analysis of a family quartet.BMC Genomics2015
26299364Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.Am J Hum Genet2015
26324103Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease.Mol Psychiatry2015
26322789Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.PLoS One2015
26681308A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51.Nat Commun2015
26198305Big biomedical data as the key resource for discovery science.J Am Med Inform Assoc2015
25996915Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.PLoS One2015
25730879Rare variants in neuronal excitability genes influence risk for bipolar disorder.Proc Natl Acad Sci U S A2015
25741365Identification of copy number variants in whole-genome data using Reference Coverage Profiles.Front Genet2015
24239249Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease.Alzheimers Dement2014
25473435Whole-genome haplotyping approaches and genomic medicine.Genome Med2014
25528190Systems genomics evaluation of the SH-SY5Y neuroblastoma cell line as a model for Parkinson's disease.BMC Genomics2014
25390934Whole-genome sequencing of the world's oldest people.PLoS One2014
25362483Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.Nat Genet2014
25091416Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.Am J Med Genet A2014
25132448Mutations in NOTCH1 cause Adams-Oliver syndrome.Am J Hum Genet2014
24837662A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.Nat Biotechnol2014
24803667Realistic artificial DNA sequences as negative controls for computational genomics.Nucleic Acids Res2014
24586241Accurate and robust prediction of genetic relationship from whole-genome sequences.PLoS One2014
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Collaborators

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Co-authored papers 32
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Co-authored papers 12
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 8
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University of Texas M.D. Anderson Cancer Center
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University of Utah School of Medicine
Co-authored papers 6
and School of Public Health, University of Michigan ann arbor
Co-authored papers 5
Institute for Systems Biology
Co-authored papers 4
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Co-authored papers 4
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Co-authored papers 4
Institute for Genome Sciences, University of Maryland School of Medicine
Co-authored papers 4
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Co-authored papers 4
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Co-authored papers 4
Renaissance Computing Institute (RENCI), University of North Carolina at Chapel Hill
Co-authored papers 4
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Argonne National Laboratory
Co-authored papers 3
Radboud University Medical Center
Co-authored papers 3
Argonne National Laboratory
Co-authored papers 3
Information Sciences Institute, University of Southern California
Co-authored papers 3
University of Washington
Co-authored papers 3
Keio University School of Medicine
Co-authored papers 3
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Aerospace Center Hospital
Co-authored papers 3
University of Virginia
Co-authored papers 3
Columbia University Irving Medical Center
Co-authored papers 3
Institute for Systems Biology
Co-authored papers 3
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