Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease

July 2015

Faisal A. Al-Allaf, Mohammad Athar, Zainularifeen Abduljaleel, Mohiuddin M. Taher, Wajahatullah Khan, Faisal A. Ba-hammam, Hala Abalkhail, Abdullah Alashwal

Scientists from Saudi Arabia published a paper in Gene demonstrating the use of targeted sequencing to detect pathogenic variants associated with familial hypercholesterolemia, including the discovery of a novel heterozygous variant. Pippin Prep was used for DNA size selection prior to sequencing on an Ion Torrent PGM.

doi: 10.1016/j.gene.2015.03.064

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