What is Whole Genome Sequencing?

What is Whole Genome Sequencing (WGS)?

Whole Genome Sequencing (WGS) — also known as Whole Genome Analysis — reads 100% of your DNA, all 3 billion base pairs, directly and completely. It's SelfDecode's most advanced genetic test, going significantly beyond the standard DNA testing most people are familiar with.

How Does Whole Genome Sequencing Compare to Standard DNA Testing?

Standard DNA genotyping (the kind used in most consumer DNA tests, including SelfDecode's standard test) reads about 0.1% of your genome directly, then uses a technique called imputation to expand those results to roughly 200 million genetic variants. It's a powerful starting point that works well for the majority of common health variants and lifestyle insights — but imputation is a prediction, not a measurement, and it cannot detect rare variants or large structural changes in your DNA.

Whole Genome Sequencing reads every base pair directly, with no prediction or inference. The two methods compare like this:

We use Illumina Next-Generation Sequencing (NGS) technology. For a deeper look at how SelfDecode's pipeline compares to other providers, see What Makes SelfDecode's Whole Genome Sequencing Different from Other Providers.

What's Available With Whole Genome Sequencing?

Your Whole Genome Sequencing starts with 30x Whole Genome Sequencing — the base sequencing service. Every base pair of your DNA is read an average of 30 times, generating a complete, permanent genomic dataset (downloadable as a VCF file). Once you're sequenced, you never need to retest — new reports can be built from the same data as science advances.

Reports available now:

• Whole Genome Genius Report — A next-generation analysis that turns your complete DNA into a precision health blueprint. Identifies the most clinically relevant genetic variants, metabolic pathways, pharmacogenomic insights, and disease-risk signals across your entire genome, then translates them into personalized strategies for health optimization, longevity, precision medicine, and preventive care. View a sample report (PDF)
• Ultimate Rare Variant Screening — Identifies rare variants that are actually disrupting your biology and shows you exactly what they're doing, including variants that conventional reports miss entirely. Focuses on which rare variants matter most for you and what you can do about them.
• ACMG-Based Predisposition Report — Screens for serious, medically actionable genetic risks based on the American College of Medical Genetics (ACMG) guidelines. Covers inherited cancer, cardiovascular, and metabolic conditions. These are findings doctors use to guide real medical decisions, so we recommend reviewing them with your healthcare provider. View a sample report (PDF)
• Advanced Pharmacogenomics (PGx) Report — Maps your personal drug-response profile across hundreds of medications and supplements, using full genome data to accurately resolve complex variants in drug metabolism genes (such as CYP2D6) that standard testing routinely misses.

Coming soon:

• HLA & Antigen Report — Reads your HLA genes at full four-digit resolution, with ancestry-matched risk estimates for autoimmune and inflammatory conditions (celiac disease, ankylosing spondylitis, narcolepsy, rheumatoid arthritis, and others). Also maps your complete antigen profile: HLA typing for transplant compatibility, blood group typing across 21 ISBT systems, and platelet antigen typing across 28 HPA systems with pregnancy-relevant NAIT risk context.
• Mitochondrial Report — Reads your complete mitochondrial genome directly, detecting variants that influence energy production, oxidative stress, and cellular repair. Analyzes mitochondrial DNA alongside the nuclear genes that support mitochondrial function.

AI Health Expert (MCP Integration) — Once your Whole Genome Sequencing is complete, you can opt to connect Claude or ChatGPT and interact with an AI health expert that has direct, secure access to your DNA. Ask questions, explore potential risks, and receive guidance grounded in your actual genome.

How to Buy Whole Genome Sequencing

You can purchase the analysis and reports individually or as a bundle:

• 30x Whole Genome Advanced Package — Whole Genome Analysis plus WGS advanced reports.
• 30x Whole Genome Ultimate Package — Whole Genome Analysis, plus all WGS advanced reports, plus a full access to SelfDecode's standard and premium reports and tools.

Current users — visit the WGS tab in your SelfDecode account for current pricing and bundle details

Not a member yet? — visit the WGS landing page or contact support@selfdecode.com with any questions

Where Does Whole Genome Sequencing Make the Biggest Difference?

When a rare variant exists in your genome, standard genotyping often won't find it — not because it failed, but because it wasn't designed to look there. Whole Genome Sequencing doesn't have those blind spots. Areas where it provides the most value:

• Hereditary cancer risk — Full gene sequencing detects rare and novel variants in BRCA1/2, TP53, Lynch syndrome genes, and others that standard panels routinely miss.
• Pharmacogenomics — Accurately resolves complex variants in drug metabolism genes (such as CYP2D6) that matter for safe medication dosing.
• Rare variant detection — The only method that reliably identifies low-frequency variants with significant health impact.
• Cardiovascular and inherited cardiac conditions — Identifies rare variants associated with cardiomyopathies, arrhythmia syndromes, and familial hypercholesterolemia.
• Neurological and neurodegenerative risk — Full coverage of genes such as LRRK2 and PSEN1/2, relevant to Alzheimer's, Parkinson's, and epilepsy.
• Structural variants and CNVs — Detects large genomic rearrangements (deletions, duplications, inversions) linked to cancer, immune dysfunction, and developmental conditions.

Is Whole Genome Sequencing Right for You?

Whole Genome Sequencing isn't necessary for everyone — for most people, our standard DNA test covers 98% of what they need. WGS may be a strong fit if you:

• Have complex, unresolved health questions that standard genetic insights haven't answered
• Have a personal or family history of rare genetic conditions, hereditary cancers, or unusual responses to medications
• Are pursuing longevity or precision medicine and want the most complete genetic foundation available
• Have already done standard DNA testing and want to go deeper
• Want the highest possible confidence that nothing has been missed

For these situations, Whole Genome Sequencing is best thought of as the right starting point rather than an optional add-on.

Questions?

Email support@selfdecode.com.