Gustavo Glusman

A Biolink-compliant graph (∼15 million nodes, ∼113 million edges) adds RefMet and LIPID MAPS metabolite and lipid classifications, plus polygenic score and clinical data element entities, to Translator content.

The paper introduces MicrobiomeKG, a knowledge graph linking microbiome taxa, pathways, and host health, derived from published microbiome studies.

The paper describes the transformation of multiomics and EHR data into privacy-preserving biomedical knowledge graphs within the Biomedical Data Translator ecosystem.

The paper identifies APOE genotype-related metabolite associations with biological age and bioenergetics in humans, showing counterintuitive patterns in {varepsilon}2 and {varepsilon}4 carriers.

The paper evaluates seven versions of the 1000 Genomes Project genomes using genome fingerprinting, identifying quality issues and recommending best practices for dataset assessment.

The paper shows that gut microbiome uniqueness increases with age and predicts survival in humans.

The paper develops a workflow to identify transcription factor binding sites across 27 human tissues using DNase-seq data, resulting in a comprehensive footprint atlas with high-quality predictions.

The paper identifies 10 blood proteins with altered serum levels in early Lyme disease patients, developing a 10-protein panel for potential diagnostic use.

NormExpression evaluates normalization methods using AUCVC and mSCC metrics, showing consistency across bulk and scRNA-seq data, and provides an R package for method comparison.

The paper presents tools for ensuring FAIRness in big biomedical data analysis through a case study on creating a transcription factor binding site atlas from ENCODE data.

SIGDA provides detailed, robust visualizations of human ancestry and population structure from genetic data, outperforming PCA in detecting population axes and relationships.

The paper introduces a fast hashing method for comparing semi-structured data, demonstrating its use on electronic health records for duplicate detection and clustering.

The paper introduces three new metrics to quantify bacterial genome composition skews and identifies outlier species with unusual skew patterns.

The paper presents the complete genome sequence of Borrelia burgdorferi MM1 strain, identifies it as a new sequence type, and provides the first contiguous assembly of a specific plasmid.

BDQC identifies data outliers and anomalies in large-scale genomic pipelines without domain knowledge, improving data quality and enabling new insights.

This paper introduces an ultra-fast method for comparing personal genomes using genome fingerprints, enabling efficient and privacy-preserving genome analyses.