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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
OBJECTIVE: 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 pu...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Galenos Publishing
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422916/ https://www.ncbi.nlm.nih.gov/pubmed/35438269 http://dx.doi.org/10.4274/jcrpe.galenos.2022.2022-3-11 |