• Genomic Variant Report, showing all detected Single-nucleotide polymorphism (SNPs), copy number variants (CNVs) and small indels.  The calls are computed in our Genformatic variant detection pipeline by comparing the sample sequence against reference sequences;
  • Catalogue of client SNPs present in dbSNP, and any novel SNPs peculiar to the client.  We will provide VCF files showing genome position for each SNP and links to the read files showing the actual reads covering each genomic variant position;
  • BAM alignment files, showing where reads were aligned against the reference genomes;
  • Link out to Genome browser tracks, enabling visual depiction of the read alignments and called variants (SNPs, CNVs, indels) in the context of customer-defined sequence features available on UCSC or NCBI genome browsers, including gene models, ESTs, coding and noncoding RNA data;
  • Genformatic Disease and Drug Risk Profile Report, which provides a comprehensive compilation of previously reported associations between client SNPs and medical conditions or drug effects.  Citations to the original research reports describing associations between disease or drug risk and the variants detected in the client's sequence are included.


Genformatic has the capability to provide customer specified analysis to support specific research aims, and we encourage you to contact us if you would like to discuss development of custom bioinformatic analysis for your research project.

Our analysis is for research purposes only, and is not approved for and should not be used for diagnostic purposes. You may wish to confirm the information in our report with additional diagnostic tests, and you should obtain confirmation of the presence of any detected variant and the validity of any described disease, condition or drug effect risk before making any treatment or therapeutic decisions.

Order our genome analysis services by email to, or call 512.565.4693.

For large studies involving many samples, please contact us for a quote

Standard 50X service

Silver = Standard + BAYSIC™ calls

Gold = Silver + VarIANT™ interpretation & analysis

100X CLIA Exome +
Genformed® report

200X CLIA Exome +
Genformed® report