Genetic & Genomic MedicinemedRxivPreprint
Carrier Frequencies Estimation of Pathogenic Variants of Autosomal Recessive and X-linked Recessive Mendelian Disorders using exome sequencing data in 1,642 Thais
Wanna Chetruengchai, Prasit Phowthongkum, Vorasuk Shotelersuk
The paper estimates carrier frequencies of pathogenic variants in 113 ACMG-recommended genes using exome sequencing data from 1,642 Thai individuals, finding high carrier rates for several disorders.
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