@article{article, title  = {{Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation}},

 publisher = {{Springer Science and Business Media LLC}},

 url = {{https://doi.org/10.1038/s41431-025-01925-7 }},

 year = {{2025}},

 month = {{8}},

 author = {{Mackley MP and Agrawal PB and Ali SS and Archibald AD and Dawson-McClaren B and Ellard H and Freeman L and Gu Y and Jayasinghe K and Jiang S and Kirk EP et al}},

 doi = {{10.1038/s41431-025-01925-7}},

 journal = {{European Journal of Human Genetics}},

 note = {{Accessed on 2025/09/16}}}