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

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Title: An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser.
Authors: Cooperstein, Isabelle B.1 (AUTHOR), Marwaha, Shruti2,3 (AUTHOR), Ward, Alistair1,4 (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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  Data: <searchLink fieldCode="JN" term="%22Genome+Medicine%22">Genome Medicine</searchLink>. 10/21/2025, Vol. 17 Issue 1, p1-20. 20p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=188799830
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              Text: 10/21/2025
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