{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Mok JW"],"funding":["National Institute of Neurological Disorders and Stroke","NIA NIH HHS","The Cullen Foundation","National Research Foundation of Korea","National Institutes of Health","Chan Zuckerberg Initiative","National Institute on Aging","Office of Research Infrastructure Programs","National Research Service Award","NHGRI NIH HHS","NINDS NIH HHS","NIH HHS","NIGMS NIH HHS"],"pagination":["1473-1484"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12212082"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["35(7)"],"pubmed_abstract":["Individuals living with rare diseases often undergo a frustrating and expensive diagnostic odyssey. Clinical geneticists who analyze exome or genome sequencing data from rare disease patients often encounter a list of variants of uncertain significance (VUS) in known disease-causing genes or rare variants in genes of uncertain significance (GUS) that are difficult to interpret, even with the integration of the latest bioinformatic tools. In this Perspective, we review how studies using the fruit fly <i>Drosophila melanogaster</i> have facilitated rare disease diagnosis by uncovering the clinical relevance of GUS and classifying rare variants into specific allelic categories (loss-of-function or gain-of-function, Muller's morphs). We showcase how fly researchers have been collaboratively st"],"journal":["Genome research"],"pubmed_title":["Functional assays in &lt;i&gt;Drosophila&lt;/i&gt; facilitate classification of variants of uncertain significance associated with rare diseases."],"pmcid":["PMC12212082"],"funding_grant_id":["U54 OD030165","U2CNS132415","2021R1A6A3A14044510","R01 HG011795","R24 OD022005","#2023-32824","R24OD022005","T32 GM139534","R01AG071557","RF1AG071557","RF1 AG071557","U54OD030165","R01 AG071557","R01HG011795","U2C NS132415","T32GM139534","#2023-332162"],"pubmed_authors":["Mok JW","Gibson SB","Yamamoto S","Dostalik HA"],"additional_accession":[]},"is_claimable":false,"name":"Functional assays in &lt;i&gt;Drosophila&lt;/i&gt; facilitate classification of variants of uncertain significance associated with rare diseases.","description":"Individuals living with rare diseases often undergo a frustrating and expensive diagnostic odyssey. Clinical geneticists who analyze exome or genome sequencing data from rare disease patients often encounter a list of variants of uncertain significance (VUS) in known disease-causing genes or rare variants in genes of uncertain significance (GUS) that are difficult to interpret, even with the integration of the latest bioinformatic tools. In this Perspective, we review how studies using the fruit fly <i>Drosophila melanogaster</i> have facilitated rare disease diagnosis by uncovering the clinical relevance of GUS and classifying rare variants into specific allelic categories (loss-of-function or gain-of-function, Muller's morphs). We showcase how fly researchers have been collaboratively st","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jul","modification":"2026-06-10T04:54:29.157Z","creation":"2026-06-10T03:07:23.678Z"},"accession":"S-EPMC12212082","cross_references":{"pubmed":["40467338"],"doi":["10.1101/gr.278291.123"]}}