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

• Hoofdauteur: Leman Damla Kotan (Auteur)
• Formaat: Boek
• Gepubliceerd in: Galenos Yayincilik, 2022-09-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

INTRODUCTION: With the increasing use of whole-exome sequencing, one of the challenges in identifying the causal allele for a Mendelian disease is the lack of availability of population-specific human genetic variation reference databases. The people of Turkey were not represented in GnomAD or other...