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在根据SNPs进行表型影响判断的时候,突变体本身的外显率(penetrance)高低是如何考量的?
报告中每个性状的得分,是不是综合了外显率的大小,并有相应人群研究结果支持?
维基中关于Penetrance的定义:"Penetrance in genetics is the proportion of individuals carrying a particular variant of a gene (allele or genotype) that also expresses an associated trait (phenotype). In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation who exhibit clinical symptoms. For example, if a mutation in the gene responsible for a particularautosomal dominant disorder has 95% penetrance, then 95% of those with the mutation will develop the disease, while 5% will not."
维基中关于Penetrance的定义:"Penetrance in genetics is the proportion of individuals carrying a particular variant of a gene (allele or genotype) that also expresses an associated trait (phenotype). In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation who exhibit clinical symptoms. For example, if a mutation in the gene responsible for a particularautosomal dominant disorder has 95% penetrance, then 95% of those with the mutation will develop the disease, while 5% will not."
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我们正在组织人手修改模型,外显率,OR值,样本规模,人群等等都会尽量考虑。
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