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Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.

Geethanjali Devadoss GandhiWaleed AamerNavaneethakrishnan KrishnamoorthyNajeeb SyedElbay AliyevAljazi Al-MaraghiMuhammad KohailanJamil AlenbawiMohammed Elanbarinull nullBorbala MifsudYounes MokrabCharbel Abi KhalilKhalid A Fakhro
Published in: Journal of translational medicine (2022)
We design and implement a standardized approach to phenotyping a population biobank for FH risk followed by systematically identifying known variants and assessing putative novel variants contributing to FH burden in Qatar. Our results motivate similar studies in population-level biobanks - especially those with globally under-represented ancestries - and highlight the importance of genetic screening programs for early detection and management of individuals with high FH risk in health systems.
Keyphrases
  • copy number
  • genome wide
  • public health
  • high throughput
  • risk factors
  • gene expression
  • case control