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Reveals a discrete genetic basis in severe hypercholesterolemia using targeted sequencing and polygenic scoring, highlighting diverse genomic etiologies.
In a clinically ascertained sample with severe hypercholesterolemia, we found that most patients had a discrete genetic basis detected using a comprehensive screening approach that includes targeted next-generation sequencing, an assay for copy number variations, and polygenic trait scores.
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Wang et al. (2016) studied this question.
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