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Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case

Crossref DOI link: https://doi.org/10.1007/s12687-024-00742-7

Published Online: 2024-10-15

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Evans, William https://orcid.org/0000-0003-0337-1221
Akyea, Ralph K. https://orcid.org/0000-0003-4529-8237
Simms, Alex

Kai, Joe https://orcid.org/0000-0001-9040-9384
Qureshi, Nadeem https://orcid.org/0000-0003-4909-0644
Funding

Funding for this research was provided by:

National Institute for Health and Care Research (IPF-2018-12-018)
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Text and Data Mining valid from 2024-10-15

Version of Record valid from 2024-10-15
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Article History

Received: 28 March 2024

Accepted: 2 October 2024

First Online: 15 October 2024

Declarations

:

: Financial: WE is a Consultant and former employee of Mendelian. Non-Financial: NQ was an advisor to the Genomics England Rare Disease Consortium on identifying rare diseases in primary care electronic health records. RKA, AS and JK have no relevant financial or non-financial interests to disclose.

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