Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation.

Research paper from Europe PMC. Evidence status: source reported.

Published

2025-08-22

Source reference

MED:40846792

DOI

10.1038/s41431-025-01925-7

Jurisdiction

Not assessed

Licence

Bibliographic metadata only; article rights retained

Mackley MP, Agrawal PB, Ali SS, Archibald AD, Dawson-McClaren B, Ellard H, Freeman L, Gu Y, Jayasinghe K, Jiang S, Kirk EP, Lewis C, McEwen A, Nisselle A, Quinlan C, Terrill B, Tutty E, McNeill A. · Eur J Hum Genet · review-article; review; journal article · Found via: Genomics England

Source: https://europepmc.org/article/MED/40846792. Captured 2026-11-02.

Limitations: Discovered through a Europe PMC keyword search for Genomics England. A mention is not a verified link to an access authorisation, project, dataset or clinical outcome. Preprints may not be peer reviewed.