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

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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
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  Data: <searchLink fieldCode="JN" term="%22Nature%22">Nature</searchLink>. Feb2025, p1-9. 9p.
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        Value: 10.1038/s41586-025-08623-w
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