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Undiagnosed Diseases Program-Istanbul (UDP-IST): Diagnostic Impact of Systematic Genomic Reanalysis with Deep Phenotyping in 121 Patients

2026-05-11

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<title>Abstract</title> <p>Background Despite transformative advances in next-generation sequencing, a large proportion of patients with suspected rare genetic disorders remain without a molecular diagnosis after initial testing. Increasing evidence indicates that this persistent diagnostic gap often reflects limitations in variant interpretation and phenotypic resolution rather than the true absence of a geneti...

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Literature Corpus work: 4a4af5cd-c1e0-50a0-bf67-e85dd664c02a
DOI: 10.21203/rs.3.rs-8842818/v1

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