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Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.

Wanna ChetruengchaiPrasit PhowthongkumVorasuk Shotelersuk
Published in: BMC medical genomics (2024)
Based on the study samples, the expanded carrier screening, which specifically targeted common autosomal recessive conditions in Thai individuals, will benefit clinical outcomes, regarding preconception/prenatal genetic carrier screening.
Keyphrases
  • intellectual disability
  • copy number
  • muscular dystrophy
  • pregnant women
  • single cell
  • genome wide
  • big data
  • cancer therapy
  • gene expression
  • dna methylation