Equity in genome sequencing for rare disease diagnosis: a cross-sectional analysis of data from the UK 100,000 Genomes Project

Sam Tallman, Loukas Moutsianas, Thuy Nguyen, Yoonsu Cho, Maxine Mackintosh, Dalia Kasperaviciute, Matthew A. Brown, Jamie M. Ellingford, Karoline Kuchenbaecker, Matt J. Silver

Open source

DOI
10.1016/j.ebiom.2026.106452
Published
2026-09
Container
eBioMedicine
Publisher
Elsevier BV
Open access
unknown

Credibility signals

uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

Cite this work

BibTeX

@article{allodium:10.1016/j.ebiom.2026.106452,
  title = {Equity in genome sequencing for rare disease diagnosis: a cross-sectional analysis of data from the UK 100,000 Genomes Project},
  author = {Sam Tallman and Loukas Moutsianas and Thuy Nguyen and Yoonsu Cho and Maxine Mackintosh and Dalia Kasperaviciute and Matthew A. Brown and Jamie M. Ellingford and Karoline Kuchenbaecker and Matt J. Silver},
  year = {2026},
  journal = {eBioMedicine},
  doi = {10.1016/j.ebiom.2026.106452},
  url = {https://doi.org/10.1016/j.ebiom.2026.106452}
}

RIS

TY  - JOUR
TI  - Equity in genome sequencing for rare disease diagnosis: a cross-sectional analysis of data from the UK 100,000 Genomes Project
AU  - Sam Tallman
AU  - Loukas Moutsianas
AU  - Thuy Nguyen
AU  - Yoonsu Cho
AU  - Maxine Mackintosh
AU  - Dalia Kasperaviciute
AU  - Matthew A. Brown
AU  - Jamie M. Ellingford
AU  - Karoline Kuchenbaecker
AU  - Matt J. Silver
PY  - 2026
JO  - eBioMedicine
DO  - 10.1016/j.ebiom.2026.106452
UR  - https://doi.org/10.1016/j.ebiom.2026.106452
ER  - 

APA

Tallman, S., Moutsianas, L., Nguyen, T., Cho, Y., Mackintosh, M., Kasperaviciute, D., Brown, M. A., Ellingford, J. M., Kuchenbaecker, K., & Silver, M. J. (2026). Equity in genome sequencing for rare disease diagnosis: a cross-sectional analysis of data from the UK 100,000 Genomes Project. eBioMedicine. https://doi.org/10.1016/j.ebiom.2026.106452

Source records