Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system
The deployed LDP was then used to sequence over 2,000 patients as part of a broader clinical implementation study ("Geno4ME"). Our findings support WGS as a viable method for broad clinical screening.
Authors
- Nick Wagner
- Kathleen Jade (ORCID: https://orcid.org/0000-0002-9482-2536)
- Josiah T. Wagner (ORCID: https://orcid.org/0000-0003-0646-2321)
- Benjamin D. Cosgrove (ORCID: https://orcid.org/0000-0003-2164-350X)
- Andrew T. Magis (ORCID: https://orcid.org/0000-0003-0576-677X)
- Krzysztof Olszewski (ORCID: https://orcid.org/0000-0002-4968-4621)
- Yuan Li (ORCID: https://orcid.org/0000-0003-4263-9569)
- Carlo Bifulco (ORCID: https://orcid.org/0000-0003-1922-6977)
- Mary Campbell
- John Welle
- Kate Emery (ORCID: https://orcid.org/0000-0002-7455-7587)
- Brian Piening (ORCID: https://orcid.org/0000-0002-2683-8157)
- Tucker C. Bower (ORCID: https://orcid.org/0009-0002-0183-5483)
- Jon Clemens
- Ora Gordon
- Eric M. Shull
- Isabelle A. Lucas Beckett
Institutions
- Providence Portland Medical Center (US)
- Institute for Systems Biology (US)
- Providence Center (US)
- Providence Health & Services (US)
Publication Details
- Journal
- Frontiers in Molecular Biosciences
- Published
- 2025-10-13
- DOI
- https://doi.org/10.3389/fmolb.2025.1669085
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00