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Rare disease gene association discovery in the 100,000 Genomes Project.

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Bibliographic Details
Title: Rare disease gene association discovery in the 100,000 Genomes Project.
Authors: Cipriani, Valentina1,2,3 (AUTHOR) v.cipriani@qmul.ac.uk, Vestito, Letizia1 (AUTHOR), Magavern, Emma F.1 (AUTHOR), Jacobsen, Julius O. B.1 (AUTHOR), Arno, Gavin2,4 (AUTHOR), Behr, Elijah R.5,6 (AUTHOR), Benson, Katherine A.7 (AUTHOR), Bertoli, Marta8 (AUTHOR), Bockenhauer, Detlef9,10 (AUTHOR), Bowl, Michael R.11 (AUTHOR), Burley, Kate12 (AUTHOR), Chan, Li F.13 (AUTHOR), Chinnery, Patrick14 (AUTHOR), Conlon, Peter J.15 (AUTHOR), Costa, Marcos A.2 (AUTHOR), Davidson, Alice E.2 (AUTHOR), Dawson, Sally J.11 (AUTHOR), Elhassan, Elhussein A. E.15 (AUTHOR), Flanagan, Sarah E.16 (AUTHOR), Futema, Marta5,17 (AUTHOR)
Source: Nature. Feb2025, p1-9. 9p.
Database: Academic Search Ultimate
Description
ISSN:00280836
DOI:10.1038/s41586-025-08623-w