
在根據SNPs進行表型影響判斷的時候,突變體本身的外顯率(penetrance)高低是如何考量的?
報告中每個性狀的得分,是不是綜合了外顯率的大小,并有相應人群研究結果支持?
?維基中關于Penetrance的定義:"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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?維基中關于Penetrance的定義:"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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我們正在組織人手修改模型,外顯率,OR值,樣本規模,人群等等都會盡量考慮。
贊同來自: dakezhang
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