Background

Variant Exploration

ORGANIZED AND ANNOTATED GENETIC SEQUENCING DATA FOR EASY EXPLORATION

 

What good is all that data if you can’t explore it to see what makes you, you!

Convert your genetic sequencing VCF file into organized spreadsheet data for easier browsing and exploration of your genetic variants.

 

Organize Your Data Now!

Common File Types For
Genetic Sequencing Data

  • FASTQ

    FASTQ files are usually fresh off the sequencing machine! They contain raw genetic reads that need to be aligned to a reference genome still. These files generally come in pairs of 2 so you’ll see people reference these files as “paired FASTQ files”. These files are used to make BAM files.

    View Example FASTQ Data!

  • VCF

    VCF files contain the actual variants found during the genetic sequencing process. These are the files that most people/labs work with since they are the smaller of the raw data files which makes them easier to work with. Most genetic sequencing labs will provide you with a VCF data file, this is the file that you can use for GeneSavvy’s secondary analysis services such as our Variant Exploration Service or any of our other Health Report Services. 

    View Example VCF Data!

  • BAM

    BAM files are made from the process of aligning the FASTQ files to a reference genome. These files are generally very large for human sequence data and contain raw genetic data organized in a way that can really only be understood by specialized software. These files are used to make VCF files.

    View Example BAM Data!

Variant Exploration Files VS Report Files

  • NADH dehydrogenase
  • CoQ - Cytochrome C Reductase/Cytochrome B
  • Cytochrome C Oxidase
  • ATP Synthase
  • Humanin
  • Ribosomal RNA (rRNA)
  • Transfer RNA (tRNA)
Mitochondrial Gene Functions

Variant Exploration Files

Our Variant Exploration Files are organized spreadsheets created from the VCF files provided by your genetic sequencing lab. These files will contain information on all of the variants listed in the VCF file you provide (usually ~30,000 variants). We annotate all these variants from data sources that provide useful information related to its function. We also apply our own scoring algorithm which we use to help identify variants with the highest potential impact your health or other traits.

 

View Example Exploration File!

Health Report Files

Our Health Report Files are PDF files that are focused on a subset of genes related to a health topic. These files are generally much easier to follow and will contain actionable suggestions based on the findings within. There are 2 main types of Health Reports that we offer.. Genotyping Reports (reports focused genes known to impact health) and Phenotyping Reports (reports focused on symptoms where the causative genes might not be known yet).

Age 0-20 (10 ng/mg Protein)
Age 21-40 (5 ng/mg Protein)
Age 41-60 (2.5 ng/mg Protein)
Age 61-80 (1.25 ng/mg Protein)
Age 80+ (0.5 ng/mg Protein)

Annotation Databases Used

We use a large amount of 3rd party databases along with our own databases to create useful data related to your variants! Here are some of the data sources you will find in our reports:

  • GeneFTX
  • RefSeq
  • ENSEMBL
  • dbSNP
  • ClinVar
  • OMIM
  • GWAS
  • MitoMap
  • SIFT
  • PolyPhen2
  • LRT
  • MutationTaster
  • FATHMM
  • InterVar
  • CADD
  • GERP++
  • ExAC
  • gnomAD
  • 1000 Genome Project
  • NCBI
  • Plus More!

The Science

Results You Can Trust

GeneSavvy processes your genetic information in our state-of-the-art genetic lab using advanced management protocols during the processing and delivery of your results to ensure the best and most reliable results we can deliver.

At GeneSavvy we have developed several proprietary tools to be incorporated in this process including our TriarKK™ bioinformatic pipeline.

Treatment Modalities Combined

At GeneSavvy our advisors, panel curators, and treatment option experts have come together from all different modalities of the health industry to provide well rounded treatment options without bias towards one or the other, its all about providing the best action for you. Specialties include:

  • Medical Doctors
  • Naturopathic Doctors
  • Doctors of Osteopathic Medicine
  • Chiropractors
  • Genetic Counselors
  • Nutritionists and Other Functional Medicine Professionals.

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