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We identify genomic variants in patient data and translate that variation into medically relevant information about your genomic risk of disease or adverse drug effects.

If you want to obtain your genomic risk profile, then please contact your physician, and ask them to assist you in obtaining a Genformatic Disease and Drug Risk Profile. Please contact info@genformatic.com if you have questions or want additional information, including referral to a qualified human geneticist or molecular pathologist for consultation.

STANDARD GENFORMATIC ANALYSIS

  • 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.

CUSTOM GENFORMATIC ANALYSIS

We will build customized analysis tools to enable generation of more focused investigations of genomic data as indicated by patient health or family history. For instance, we can analyze and compare DNA and RNA sequence data from normal germline somatic tissues against genomic sequence data from one or more abnormal tissue samples.

  • We will analyze whole genome, whole exome, or whole transcriptome data for medical research and generation of genomic risk profile information. If you want our assistance in generating high quality sequence data, then we can assist in generating sequence data before performing our comprehensive genome analysis. Our analysis is quick and affordable. Complete analysis requires 2 weeks or less, and costs under $11,000 for a single sample. Multiple samples from the same or different patients may be obtained for less. For current pricing and your specific needs please contact us.
  • Our analysis services and the reports we generate are for research purposes only, and are not approved for and should not be used for diagnostic purposes. You may wish to confirm the information in our report and risk profile 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.
  • To order our genome analysis services, please have your doctor email info@genformatic.com, or ask your physician to call 512.565.4693. Remember, genetic risk is only one component of your total probability of ultimately developing any particular condition or disorder or experiencing a drug efficacy or safety event. Environmental influences may be of equal or greater importance than genomic risk in the assessment of your overall probability of developing any specific disorder or condition. Our analysis is for informational and research purposes only and should not be relied upon or used as a diagnostic test.