# A state-of-the-art web platform for collaborative, longitudinal genome diagnostics

> **NIH NIH R44** · FRAMESHIFT LABS, INC. · 2024 · $982,368

## Abstract

Summary/Abstract
Undiagnosed diseases clinics and newborn intensive care unit rapid genome sequencing programs have
emerged as the primary settings for diagnosing patients with complex phenotypes. Subspecialty clinics,
pharmaceutical companies, and direct-to-consumer genetic testing companies are increasingly adopting these
technologies for diagnosing patients, or studying disease with the goal of developing treatments. In all cases, a
diagnostic, or research analysis approach based on comprehensive genomic sequencing data, and, crucially,
collaborative analysis by expert teams has been adopted. The team-based approach leverages the expertize
of a wide array of specialists, for example, the physician's knowledge of the patient's phenotypes and family
history; the medical geneticist's knowledge of genetic diseases; the bioinformatician's and variant scientist's
expertise in interpreting the potential diagnostic role of individual genetic variants; the genetic counselors
expertize in synthesizing all available data, and coordinating with patients, families and treating physicians. A
patient's phenotypes, and more frequently, the myriad sources of evidence used to support the diagnostic role
of variants, genes, and their associations with disease evolve over time, and consequently research and
diagnostic analysis is a long-term process. Existing tools focus on analysis at a single point in time, and require
over-burdened genetic counselors to manually evaluate cases for changes, or miss the opportunity for
diagnosis due to a lack of evidence at the time of evaluation. Here, we propose to build a commercial software
system to address two pressing needs faced by consumers of genomic sequencing data. First, a complete
end-to-end bioinformatic pipeline to process raw sequencing data to lists of prioritized genetic variants, and
structural variant calls, which explicitly includes an automated (or manually triggered) data re-analysis pipeline
to support long-term genomic care. Second, a comprehensive, versatile, and yet easy-to-use visualization
platform will seamlessly display all genomic data and metadata to the analysis teams in web applications
custom designed to address the needs of the diverse experts collaborating on these projects. We will evaluate
and refine this product in our undiagnosed diseases clinic and our newborn intensive care unit, ideal settings to
garner critical feedback and suggestions from teams representative of the initial target market for this tool.

## Key facts

- **NIH application ID:** 10929931
- **Project number:** 5R44HG012885-02
- **Recipient organization:** FRAMESHIFT LABS, INC.
- **Principal Investigator:** Alistair Ward
- **Activity code:** R44 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $982,368
- **Award type:** 5
- **Project period:** 2023-09-15 → 2026-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10929931

## Citation

> US National Institutes of Health, RePORTER application 10929931, A state-of-the-art web platform for collaborative, longitudinal genome diagnostics (5R44HG012885-02). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10929931. Licensed CC0.

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