<HashMap><database>biostudies-literature</database><scores/><additional><omics_type>Unknown</omics_type><volume>145(1)</volume><submitter>Eldesouky M</submitter><funding>Al Jalila Foundation</funding><funding>Internal grant awards from Genetics and Genomic Medicine Centre, NeuroGen Healthcare</funding><funding>AlMahmeed Collaborative Research Awards</funding><funding>Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU) - College of Medicine</funding><journal>Human genetics</journal><pagination>23</pagination><full_dataset_link>https://www.ebi.ac.uk/biostudies/studies/S-EPMC12920333</full_dataset_link><repository>biostudies-literature</repository><pubmed_title>Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis.</pubmed_title><pmcid>PMC12920333</pmcid><funding_grant_id>Y2402</funding_grant_id><funding_grant_id>ALM 1801</funding_grant_id><funding_grant_id>ALM 20-0074</funding_grant_id><funding_grant_id>AJF2023-207</funding_grant_id><funding_grant_id>IG-2022</funding_grant_id><pubmed_authors>Akter H</pubmed_authors><pubmed_authors>Hasan SM</pubmed_authors><pubmed_authors>Eldesouky M</pubmed_authors><pubmed_authors>Shiyas S</pubmed_authors><pubmed_authors>Islam A</pubmed_authors><pubmed_authors>Hasan MN</pubmed_authors><pubmed_authors>Hossain MT</pubmed_authors><pubmed_authors>Uddin M</pubmed_authors><pubmed_authors>Woodbury-Smith M</pubmed_authors><pubmed_authors>Saiful M</pubmed_authors><pubmed_authors>Nassir N</pubmed_authors><pubmed_authors>Berdiev BK</pubmed_authors><pubmed_authors>Rahman P</pubmed_authors><pubmed_authors>Kuebler WM</pubmed_authors></additional><is_claimable>false</is_claimable><name>Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis.</name><description/><dates><release>2026-01-01T00:00:00Z</release><publication>2026 Feb</publication><modification>2026-07-16T12:31:09.619Z</modification><creation>2026-07-09T10:55:48.003Z</creation></dates><accession>S-EPMC12920333</accession><cross_references><pubmed>41711983</pubmed><doi>10.1007/s00439-026-02821-w</doi></cross_references></HashMap>