Personal Genomics
Personal genomics is an area of genomics focusing specifically on the sequencing and analysis of one person’s genome, and then giving them their genomic information.
Overview
Our lab provide clinical-grade privacy-focused personal genomics service using Whole Genome Sequencing, Whole Exome Sequencing, and Genotyping Array technologies. We can sequence and analyze your genome, and deliver all the genomic information back to you. The full sequencing of a human genome at 30x coverage produces over 100 gigabytes of raw DNA data (over 300 gigabytes of data at 100x coverage). We give you access to this large amount of DNA sequencing data so that you can explore it on your own. You can also bring your data to your physician or genetic counselor for clinical analysis.
Key Features and Benefits
- Decode 100% of your DNA with Whole Genome Sequencing
- Download your FASTQ, BAM, and VCF files and dive deeper into your Whole Genome Sequencing data
- Take irrevocable ownership of your Whole Genome Sequencing data
- Keep your genetic information protected in a secure computing environment
What’s Included
- Sample Receipt and Initial QC
- Library Construction and QC
- Sequencing and Data Delivery
- Bioinformatics Analysis
Data Deliverable
- FASTQ File – Your raw sequencing data, generated in our labs
- BAM File – Your genome, reconstructed from your sequencing data
- VCF File – A list of all genetic variants found in your genome
Specimen Requirements
We accept whole blood, buccal swab, saliva, and extracted DNA (from whole blood, Buccal swabs, or saliva) for germline WES and WGS.
| Specimen Type | Amount & Quality | Collection Tubes |
|---|---|---|
| Whole Blood | 3 to 5 mL (Minimum ≥ 2 mL) | EDTA (Purple-top) tube or ACD (yellow-top) tube |
| Buccal Swab | ≥ 2 tubes | ORAcollect-Dx OCD-100/100A (DNA Genotek) |
| Saliva | ≥ 2 ml | SuperDNA kit (AGTC Genomics) Oragene-DNA (OG-600) (DNA Genotek) |
| gDNA | ≥ 1 μg of purified DNA Volume ≥ 20μL Concentration ≥ 20ng/μL | Eppendorf Tubes |