Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar

@inproceedings{BenOmranb2014WholeES,
  title={Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar},
  author={T. Ben-Omranb},
  year={2014}
}
  • T. Ben-Omranb
  • Published 2014
Whole exome sequencing (WES) has greatly facilitated the identification of causal mutations for diverse human genetic disorders. We applied WES as a molecular diagnostic tool to identify disease-causing genes in consanguineous families in Qatar. Seventeen consanguineous families with diverse disorders were recruited. Initial mutation screening of known genes related to the clinical diagnoses did not reveal the causative mutations. Using WES approach, we identified the definitive disease-causing… CONTINUE READING

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