Implications of genetic testing in noncompaction/hypertrabeculation.
作者： Joseph T.C. Shieh
DOI: 10.1002/AJMG.C.31371
关键词: Computational biology 、 Disease 、 Biology 、 Cardiovascular genetics 、 Gene panel 、 Penetrance 、 Genome 、 Genetic testing 、 Genomic medicine 、 Genetics
摘要: Noncompaction/hypertrabeculation is increasingly being recognized in children and adults, yet we understand little about the causes of disease. Genes associated with noncompaction/hypertrabeculation have been identified, but how can these assist clinical management? Genomic technologies also expanded tremendously, making testing more comprehensive, they present new questions given tremendous diversity phenotypes variability genomes. Here genetic evaluation strategies assess options for noncompaction/hypertrabeculation. We genes/gene panels offered by laboratories potential high-throughput sequencing to fuel further discovery. discuss challenges cardiovascular genetics, such as interpretation genomic variants, prediction disease penetrance.
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