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Science

Our Platform

Platform overview

We have invented a computational system that uses the genetic information of two prospective parents to determine the risk of disease in potential children. Our method computes a Variant Gene Dysfunction (VGD) score for every variant found in each parent. These scores are subsequently used to generate thousands of digitally simulated genomes, or Virtual Progeny, to quantify a family’s risk of passing on a serious heritable disease to a future child.

Variant Gene Dysfunction

A conventional carrier test has only two outcomes based on the assumption that every DNA variant is either disease-causing or benign. GenePeeks integrates data from multiple sources to compute the degree to which any variant, known or novel, reduces normal gene function. The combination of Variant Gene Dysfunction (VGD) scores found in a virtual progeny provides an estimate of disease likelihood and severity.

VGD  overview
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Virtual Progeny Analytics

Virtual Progeny Analysis

Virtual Progeny Analytics (VPA) simulates human reproduction by creating “virtual sperm” and “virtual egg” DNA sequences that are then combined to create novel genomes called “virtual progeny” (VP). Each VP is examined for potentially dysfunctional genes to assess a couple’s risk of conceiving a child with disease. By targeting the genomes of hypothetical children, we interpret disease at the level at which it may occur.

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Genes & Diseases

The GenePeeks Preconception Screen examines a set of genes that are associated with over 1100 life-threatening or life-altering genetic diseases. Rather than a targeted mutation screen, we use next-generation sequencing to analyze the entire coding region of every gene, covering millions of DNA positions.

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0 GENETIC DISEASES INCLUDED

Research Browser

GenePeeks Research Browser

In the spirit of sharing information and advancing the progress and practice of human genetics, we created the publicly accessible GenePeeks Research Browser (GPRB). GPRB is an interactive web application intended for comprehensive variant, gene, and disease curation. The centerpiece of GPRB is a novel graphic display integrating population and clinical data with Variant Gene Dysfunction (VGD) scores.

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Publications