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Comparative Analyses of Turkish Variome and Widely Used Genomic Variation Databases for the Evaluation of Rare Sequence Variants in Turkish Individuals: Idiopathic Hypogonadotropic Hypogonadism as a Disease Model

Leman Damla Kotan
Published in: Journal of clinical research in pediatric endocrinology (2022)
These results suggest that the TRV is the appropriate database to use for rare genomic variant evaluations in the Turkish population. Our data also suggest that variomes from geographic neighborhoods may serve as substitute references for populations devoid of their own genomic variation databases.
Keyphrases
  • copy number
  • big data
  • electronic health record
  • machine learning
  • emergency department
  • dna methylation
  • gene expression
  • adverse drug
  • replacement therapy
  • genetic diversity
  • data analysis