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Genformatic analysis is intended to provide a state of the art assessment of your patient's possible genetic risk factors to enable appropriate action to confirm any identified risk, mitigate the risk of potential disease or adverse drug reactions, improve the practice of preventative medicine, and achieve superior health care outcomes for your patient.

Genformatic can guide your practice toward realization of the potential of personalized medicine using our automated computational pipeline for genomic variant detection and genomic risk profile generation.

First we process your patient's Genome sequence data using our Genformatic DNA and RNA analysis pipeline to identify all genomic variants, including all Single Nucleotide Polymorphisms (SNPs).

Our Genformatic analysis pipeline is implemented using proven and validated computational tools for genomic variant identification

Next, we generate patient-specific genomic risk profiles. Our computational pipeline compares the SNPs detected in your patient's genomic sequence data against our database of SNPs documented in the research literature. If a SNP detected in your patient sample has been associated with the an
elevated or reduced risk of medical conditions, diseases or drug effects, then we will add that information to your patient's genomic risk profile.


Services


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 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 or somatic tissues against genomic sequence data from one or more suspected abnormal tissue samples, such a biopsies to aid oncologists in their practice. 
  • Our analysis services and the reports we generate are for research and informational 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.
  • We do not generate DNA or RNA sequence data in our facility, but we can arrange to transmit your samples to a Clinical Laboratory Improvement Amendments (CLIA) approved laboratory for sequencing.
  • We will perform our Genformatic analysis after the sequence data has been reported back to us.

Please contact info@genformatic.com if you have questions or want additional information.


Order our genome analysis services by email to info@genformatic.com, or call 512.565.4693.