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The Present and the Future of Genetic Testing in Familial Hypercholesterolemia: Opportunities and Caveats.

Current atherosclerosis reports - 19 May 2018

Hooper Amanda J, Burnett John R, Bell Damon A, Watts Gerald F

Abstract excerpt

PURPOSE OF REVIEW: We summarize recent advances in the understanding of genetic testing in familial hypercholesterolemia (FH), the use of expanded FH next-generation sequencing panels, and directions for future research. RECENT FINDINGS: The uptake of massively parallel sequencing in research and diagnostic laboratories has enabled expanded testing for FH and its phenocopies, with the added advantage that copy...

Topics

DNA Copy Number Variations
Forecasting
Genetic Testing
Genomics
High-Throughput Nucleotide Sequencing
Humans
Hyperlipoproteinemia Type II
Mutation
Phenotype
Risk Factors
Sequence Analysis, DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29779130
DOI: 10.1007/s11883-018-0731-0

Genes

ABCG5
APOE
LIPA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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