Quantcast Knowledge : Health Nucleus

Genomics: A Deeper Understanding

What Makes You You?

Understanding genomics is crucial to your Health Nucleus journey. Let’s take a look at the basics – and how the Health Nucleus approach can help explore the story of you.

Your Cells, Your DNA

You are made up of trillions of cells. Tightly coiled within the nucleus of each of your cells is the DNA required to create you. Your DNA is comprised of four chemical bases (A, C, G, T) that make up your genetic code.

Your Genome

The complete set of your DNA is referred to as your genome. We each have over 6 billion base pairs of the letters A, C, G, T in our genomes. When we sequence your genome we identify the unique sequence variations that identify you, your traits, and your disease risk.

Adenine
Adenine
Cytosine
Cytosine
Guanine
Guanine
Thymine
Thymine

How We Do It

The Health Nucleus offers whole genome sequencing leveraging cutting-edge technology to truly understand you. Here’s how we do it:

DNA Purification

A blood sample is collected, and from that sample your DNA is isolated using highly automated, high-throughput methods.

Library Preparation and NGS Run

Then, the DNA is processed to generate the genetic code. DNA libraries are sequenced using next generation sequencing (NGS). NGS runs can produce millions of bases worth of DNA sequences in few hours.

Bioinformatics Analysis

The NGS results are used to generate a genome sequence through an advanced bioinformatics process. The assembled sequence is compared to the human reference genome. This produces a list of differences or variants between the patient’s genome and the reference. The patient’s sequencing data are used to query Human Longevity’s variant annotation database to generate a reportable variant list.

Variant Annotation

Clinical relevance of the reportable variants is assessed through a combination of advanced bioinformatics techniques and expert evaluation by a team of Clinical Geneticists, Genetic Counselors and PhD scientists. We evaluate your genome following current AGMG clinical guidelines.