The data is big. The applications are bigger.
Rosalind Franklin crystallized DNA
Focused analysis creates better methods to identify rare disease
Find New Targets
Comprehensive sequencing reveals more details about the genome
Patient-first research can deliver modern tools to improve care now
Advancing Healthcare Through Genomics
Improve identification of rare monogenic disorders
A large portion of participants in the whole genome sequencing diagnostic program will be diagnosed with a rare monogenic condition. Due to complex clinical presentation, traditional research methods have struggled to identify the full spectrum of patients harboring pathogenic variants. Our program will improve standards for diagnosing rare monogenic conditions and provide critical insights about the full spectrum of 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 invites all patients and family participants from the whole genome sequencing diagnostic program to partake in a number of survey-style research efforts to shed light on the impact of these variants on health.
Contribute to the fine mapping of the genome
By partnering with strong computational groups, including our Stanford collaborators, IDG patient information will help uncover broad principles of DNA regulation and genomic function. Deep learning and cloud computation paired with rich data will accelerate this discovery.
Improve disease classifications
Clinical symptoms that seem similar may have distinct genetic causes. Precision medicine believes that targeting the root cause of symptoms will improved treatment outcomes compared with traditional treatments that focus on symptoms. By enabling precise diagnosis, genomic analysis bring a new lens to medical practice.
Track and decode VUS
Variants of unknown significance (VUS) will be identified and reported in many of our participants. Through our research program, we will be able to 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.
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Collaborate with In-Depth Genomics
We continuously explore new directions for meaningful research and data application. Proposals for collaboration are welcomed on a rolling basis from active researchers in medicine, academia, advocacy, and industry. When possible, please send a one page research concept exploring the contributions expected from both parties.