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Humansgenomes services overview
Health Resources

Comprehensive human genomics educational content and clinical resources developed in partnership with university medical genetics programs, research institutions, and patient advocacy organizations to provide scientifically rigorous, accessible information. Our genomics knowledge base covers whole-genome sequencing interpretation, structural variant biology, copy number analysis, pharmacogenomics, and the clinical utility of genomic testing across therapeutic areas from oncology to rare disease and reproductive medicine. Expert reviewer panels composed of clinical genomicists, bioinformaticians, and genetic counselors ensure all content reflects current professional guidelines including ACMG standards and ESHG recommendations. Resources are freely available and updated quarterly to incorporate the latest evidence from landmark genomics studies.

Research Database

Access a curated genomics research library indexing thousands of peer-reviewed publications, open-access datasets, and clinical guideline documents from leading genomics journals, preprint servers, and professional society repositories. Our advanced search engine supports queries by gene symbol, chromosomal locus, phenotype keyword, variant type, and clinical significance classification, returning results ranked by citation impact and clinical relevance. Structured evidence summaries for gene-disease associations are derived from ClinGen curation standards and provide clinicians with concise assessments of the strength of evidence supporting clinical actionability. Links to primary data repositories including dbGaP, gnomAD, and the European Genome-phenome Archive provide access to the raw data underlying published findings.

Patient Community

Connect with a global genomics community spanning patients seeking answers for rare undiagnosed conditions, researchers building population genomics cohorts, clinicians expanding their genomics practice, and advocates shaping genomics policy and ethics. Our structured discussion forums include technical channels for bioinformatics and variant interpretation questions, clinical channels for case-based discussions, and patient channels for lived experience sharing and peer support. The Undiagnosed Diseases Network community section connects families whose conditions remain genetically unexplained with rare disease specialists, research programs, and other families facing similar diagnostic odysseys. Monthly expert-moderated Q&A sessions feature invited genomicists discussing emerging tools, clinical implications, and future directions.

Health Assessments

Interactive genomic risk assessment tools that translate complex genomic data into actionable health insights — including polygenic risk score calculators for common conditions, pharmacogenomic drug interaction checkers, and family history risk stratification tools aligned with clinical guidelines. Our secondary findings checker helps individuals who have had whole-genome or whole-exome sequencing understand which ACMG v3.2 medically actionable genes were assessed in their report and what current recommendations exist for each. Ancestry composition tools use reference population data from the Human Pangenome project to provide high-resolution estimates of genetic ancestry across 50+ global populations. All tools are developed with bioethics advisors and include clear guidance on seeking professional interpretation before making clinical decisions.

Educational Content

In-depth educational resources covering the full depth of genomic science — from the physical structure of chromosomes and the mechanics of DNA replication to cutting-edge topics including long-read sequencing, pangenome references, structural variant detection, and AI-assisted variant pathogenicity prediction. Our Genomics Fundamentals course provides a self-paced learning pathway through 24 modules covering sequencing technologies, variant classification, population genetics, and clinical genomics applications — suitable for students, clinicians, and informed patients. Interactive genome browser tutorials teach users to navigate UCSC Genome Browser and Ensembl to interpret their own genomic data in the context of functional annotation and regulatory elements.

Expert Consultations

Schedule telehealth genomics consultations with credentialed specialists — including board-certified clinical geneticists, ABGC-certified genetic counselors, and clinical bioinformaticians — to receive expert interpretation of whole-genome or whole-exome sequencing results, secondary findings, and polygenic risk reports. Pre-consultation genomic data review ensures your specialist has fully analyzed your sequencing data before the appointment, allowing the session to focus on clinical implications and action planning rather than basic data retrieval. Our multidisciplinary case conference service connects complex cases with panels of specialists in relevant fields — oncology, cardiology, neurology, or metabolic medicine — for integrated genomic management plans that coordinate across clinical teams.

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