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

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...

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Main Author: Leman Damla Kotan (Author)
Format: Book
Published: Galenos Yayincilik, 2022-09-01T00:00:00Z.
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3rd Floor Main Library

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