Medical Genomics

We identify genomic variants in patient data and translate this variation into medically relevant information.


Genomic information for nonexperts

We search your genome for genetic variations with known medical risks. We report genomic information that you and your doctor may use in developing a personalized, preventive health plan.


Genome analysis & support for research

We provide expert analysis of nucleic acid sequence data for research applications. We also design data architecture and develop database solutions for research projects, medical institutions and industry.

We rapidly and accurately generate, annotate, interpret and securely share genomic information. 
We offer the following services for individuals, doctors and research scientists:

Human Genome Information for Individuals

For research, informational and educational use only.

We flag genomic variants that have been associated with health risks or other important traits. We provide links to the original medical and scientific research that describe the possible health effects associated with variants we detect and flag.

Genomes and Exomes for Scientists

For research institutions, research investigators and the biopharmaceutical industry.

We customize our sequencing and bioinformatic analysis to answer your specific questions.

Medical Genomics: CLIA Exome Sequencing for Oncology and Disease Diagnosis

For Medical Professionals and Patients

Our medical genome analysis can aid diagnosis of genetic disease, predict risk of common medical conditions or probable drug responses, and provide comparative analysis of tumor and normal tissue for clinical oncology.

Genome Analysis and Interpretation

If you have sequence data, we have genome analysis and interpretation services to translate that data into actionable information. Let us help you understand what your sequence means: use our genformed data processing and analysis environment to build your own integrated genomic health report or explore genomic data and its biological and medical implications.

BAYSIC™ Bayesian Integrated Caller

BAYSIC integrates multiple call sets using Bayesian machine learning for dramatic improvements in variant call sensitivity and specificity.

VarIANT™ Interpretation and Analysis Tool

Our VarIANT application integrates information from a variety of important genomic databases to deliver the most incisive variant interpretation possible.

GENIE™ genomic information exchange

A system for secure, encrypted exchange of genomic data among providers, patients, institutions and other consented entities.


Securely share and compare your genome to assess your relationship, ancestry, health risk, or genetic compatibility – without disclosure of your actual genome sequence or genotype information. Because your genotype or genome sequence data can be used to personally identify you, and potentially conveys sensitive personal health risk information, comparing your genome to others without compromising your privacy or revealing your identity is a revolutionary advance.

Whether you’re engaged in microbiome research or want to evaluate the species composition living in or on various niches of your body, we provide comprehensive microbiome sequencing and metagenomic analysis. Genformatic has expertise in microbiome analysis for research and consumer information applications. We offer rapid turnaround and custom analysis options.

Genformatic provides custom bioinformatic services, including software development in Perl, C, Java, Python and Ruby, as well as transcriptome and RNAseq, non-human genome analysis and more. Genformatic also provides database management for big data projects and Health IT infrastructure improvement.

If you have questions, or want more information, please contact us at