Curating the Clinical Genome 2024 ePoster Gallery-Progress in Curating Gene-Disease Validity for Kidney Cystic and Ciliopathy Disorders to Inform Genomic Interpretation

Progress in Curating Gene-Disease Validity for Kidney Cystic and Ciliopathy Disorders to Inform Genomic Interpretation

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This document discusses the progress made in curating gene-disease validity for kidney cystic and ciliopathy disorders to aid in genomic interpretation. The research is conducted by a team that includes individuals from various institutions in the USA and France. The study involves reviewing genes classified as Strong, Moderate, Limited, or Disputed in terms of their association with the diseases. The curation efforts focus on genes related to ciliopathy disorders, aiming to provide valuable insights for the medical community and ultimately improve patient health outcomes. The methodology includes re-curating genes previously reviewed, identifying gene lists, prioritizing genes, and assessing genetic and experimental evidence to assign clinical validity classifications. The study draws on the Clinical Genome Resource framework for evaluating gene-disease associations. Overall, the project highlights the importance of ongoing curation efforts, especially in the context of complex genetic disorders like kidney cystic and ciliopathy disorders.

Keywords

gene-disease validity

kidney cystic

ciliopathy disorders

genomic interpretation

curation progress

clinical validity classifications

gene lists

ciliopathy genes

genetic evidence assessment

Clinical Genome Resource