对于遗传物质改变引起的疾病，几乎所有携带者均有临床表现。
全基因组学关联研究所产生的数据结果是巨大的，但是很少能直接鉴别出突变和病症之间的功能关系。
The output of genome-wide association studies is vast, yet it is rarely straightforward to identify the functional connection between a variant and a disorder.
目前报道的生物素酶基因突变超过80余种，全羧化酶合成酶基因突变20多种。
Thus far more than 80 mutations in the gene of biotinidase and more than 20 mutations in the holocarboxylase synthetase gene have been reported.
摘要目的探讨y染色体微缺失和突变时，两男性个体间的全同胞关系鉴定。
Abstract: Objective To explore the identification method of full sibling between two males with microdeletion and mutation of Y chromosome.
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