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An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser.

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Bibliographic Details
Title:	An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser.
Authors:	Cooperstein, Isabelle B.¹ (AUTHOR), Marwaha, Shruti^2,3 (AUTHOR), Ward, Alistair^1,4 (AUTHOR), Kobren, Shilpa N.⁵ (AUTHOR), Carter, Jennefer N.² (AUTHOR), Quinlan, Aaron (AUTHOR), Elkadri, Abdul (AUTHOR), Vanderver, Adeline (AUTHOR), Rebelo, Adriana (AUTHOR), Beggs, Alan H (AUTHOR), La Spada, Albert R (AUTHOR), Huang, Alden (AUTHOR), Paul, Alex (AUTHOR), Miller, Alexander (AUTHOR), Bale, Allen (AUTHOR), McConkie-Rosell, Allyn (AUTHOR), Krokosky, Alyson (AUTHOR), Tran, Alyssa A (AUTHOR), Gropman, Andrea (AUTHOR), Vargas, Andres (AUTHOR)
Source:	Genome Medicine. 10/21/2025, Vol. 17 Issue 1, p1-20. 20p.
Database:	Academic Search Ultimate
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Description
ISSN:	1756994X
DOI:	10.1186/s13073-025-01546-1