Clinically relevant functional annotation of genotype.
Clinically relevant functional annotation of genotype.
复制标题
基因型的临床相关功能注释。
DOI：
10.1161/circgenetics.114.000506
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发表时间：
2014
期刊：
影响因子：
--
通讯作者：
Vasan,RamachandranS
中科院分区：
文献类型：
--
作者：
MacRae,CalumA;Vasan,RamachandranS
MacRae et al Functional Annotation of Genotype 3 as having atypical Fabry disease exhibit outcomes discrete from normal controls. Although these data certainly suggest that lyso-Gb3 may ultimately have some use in the diagnosis of Fabry disease, the absence of any data on unaffected family members or on unselected populations preclude such conclusions.Essentially every biomarker in history has fallen victim to a dramatic loss of specificity in the context of a reduced pretest probability. One need only reflect on the evolution of cardiac troponin T from a highly specific marker of myocardial necrosis to an archetypal gestalt for general malaise. How then will medical science ever be able to define the biological functions downstream of a given set of genetic variants with the precision necessary for meaningful clinical decision making?
