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Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.

Claire L SimpsonAnthony M MusolfQing LiLaura PortasFederico MurgiaRoberto Y CorderoJennifer B CorderoBilal A MoizEmily R HolzingerCandace D MiddlebrooksDeyana D LewisRichard K WilsonDwight Stambolian
Published in: BMC medical genetics (2019)
We identified 2 novel linkage peaks for myopia on chromosomes 7 and 8 in these Ashkenazi Jewish families and replicated 2 more loci on chromosomes 1 and 11, one previously reported in refractive error but not myopia in these families and the other locus previously reported in the literature. Strong candidate genes have been identified within these linkage peaks in our families. Targeted sequencing in these regions will be necessary to definitively identify causal variants under these linkage peaks.
Keyphrases
  • genome wide
  • copy number
  • dna methylation
  • hiv testing
  • men who have sex with men
  • optic nerve
  • cancer therapy
  • genome wide association study
  • drug delivery
  • data analysis