Developing a phenotype risk score for <i>TTR</i> V142I to capture undiagnosed variant transthyretin amyloidosis in health systems
This work demonstrates that standard PheRS methods are insufficient for common, adult-onset cardiovascular genetic diseases such as V142I-related ATTRv, but when redesigned with disease biology, ancestry, age, and clinical context in mind, PheRS become clinically actionable tools for precision cardiology.
Authors
- Amy Kontorovich (ORCID: https://orcid.org/0000-0001-7400-5507)
- Vikas Pejaver (ORCID: https://orcid.org/0000-0002-1943-0284)
- Noura S. Abul‐Husn (ORCID: https://orcid.org/0000-0002-5179-1944)
- Kathleen D.M. Ferar
- Mohammad Ghouse Syed (ORCID: https://orcid.org/0000-0002-9115-5512)
- Deepa Sarkar
- Lisa A. Bastarache
- Eimear E. Kenny
Institutions
- Mount Sinai Hospital (US)
- Palo Alto Institute (US)
- Genomic Health (United States) (US)
- Vanderbilt University Medical Center (US)
- Icahn School of Medicine at Mount Sinai (US)
Publication Details
- Journal
- medRxiv
- Published
- 2026-01-06
- DOI
- https://doi.org/10.64898/2026.01.05.26343489
- Primary Topic
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Georgia Clinical and Translational Science Alliance
- National Institutes of Health
- National Center for Advancing Translational Sciences