Analysis of Germline Variants with Low Allele Frequencies in Turkish Healthy Cohort

BACKGROUND/AIMS: Within a specific population, rare variants with minor allele frequencies (MAFs) below 0.01% may underlie a particular genetic disorder when Mendelian diseases are investigated. Although MAFs can be determined by universal databases, the importance of a variant with a low MAF may va...

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Главные авторы:	Sezen Güntekin Ergün, Fulya Yaylacıoğlu Tuncay, Gökçe Akan, Celal Bulğay, Hasan Hüseyin Kazan
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Galenos Publishing House 2025-12-01
Серии:	Cyprus Journal of Medical Sciences
Предметы:	exome sequencing turkish population rare variants minor allele frequencies
Online-ссылка:	https://cyprusjmedsci.com/articles/analysis-of-germline-variants-with-low-allele-frequencies-in-turkish-healthy-cohort/doi/cjms.2025.2025-99
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