The data are big. The applications are bigger.

Rosalind Franklin, first to crystallize DNA

Improve Diagnosis

Innovative tools + analysis to better identify signatures of disease

Find New Targets

Deep phenotyping reveals genome - and disease - level associations

Raise Standards

Personalized tools improve data collection to impact care now

Advancing Healthcare with
Genomes & Phenomes

Improve identification of rare disorders

A large portion of participants in the whole genome sequencing diagnostic program will be diagnosed with a rare, often monogenic, condition. Due to complex clinical presentation, traditional research methods have struggled to identify the full spectrum of patients harboring pathogenic variants for these diseases. Our program will diagnose rare disease and provide critical insights about the full spectrum of symptoms and patient experiences.

Identify new therapeutic targets

Whole genome sequencing reveals regulatory and intronic regions of DNA that modulate clinical symptoms and the effects  other genetic variants. Our rich data set enables analysis of these complex patterns within complex biological networks and the identification of genetic modifiers as therapeutic targets, a strong advantage over exome- or gene-level data for developing targeted therapies.

Clarify the effects of common variants

Our ability to engage patients in long term research opens the door for exploring many facets of genetics, including common variants with small but cumulative effects on health. IDG encourages patients from our diagnostic programs to register for Health Stories to shed light on the full impact of these variants on health.

Contribute to the fine mapping of the genome

Through partnerships with strong computational groups, especially our Stanford University collaborators, IDG's programs collect data to uncover numerous details of genome regulation and function. Pairing rich data with deep learning and cloud computing accelerates discovery.

Improve disease classifications

Clinical symptoms that seem similar may have distinct genetic causes. Modern medicine targets the root cause of symptoms to improve treatment outcomes. Deep phenotyping and genome sequecning increase the precision of diagnosis and offer a new lens to healthcare.

Track and decode VUS

Variants of unknown significance (VUS) will be identified and reported in many of our participants. Through all of our research programs, we will track and monitor correlations between these variants and health outcomes. Decoding all of the genetic markers in the human genome requires rich data and a focused approach.

Collaborate with In-Depth Genomics

Share your vision.

We continuously explore new directions for research and data application. Proposals are welcomed on a rolling basis from active researchers in medicine, academia, advocacy, and industry. To get the conversation going, please submit a brief description of yourself and your collaboration interests.