
关于上传Promethease网站分析:Promethease是不是搞错了,有的位点数据跟wegene下载的数据是反链?
Wegene下载的数据:
rs28937594 9 36217396 GG
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Promethease 的报告:
rs28937594(C;C)
Inclusion Body Myopathy, type 2 see discussion at rs28937594
rs28937594, also known as c.2228T>C, p.Met743Thr, M743T and most commonly in the literature M712T, is a mutation in the GNE gene on chromosome 9. The very rare rs28937594(C) allele is the most common mutation leading to autosomal recessive inclusion body myopathy 2 (IBM2 or HIBM) in Middle Eastern populations. See also OMIM 603824.0005 [OMIM:INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE]
如上,Promethease对此位点的解读是很罕见的一种隐形肌肉退化疾病,如果是纯合的话我今天应该没法走路了。
我觉得Promethease是不是搞错了?做了反链处理?!
后来又看了几个位点又是跟wegene数据是相同的。没搞懂!
8 个回复
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下面又是几个例子:
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WEGENE: rs80357178 17 41243491 AC
Promethease:rs80357178(G;T)
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WEGENE:rs111033307 7 107334918 GG
Promethease:rs111033307(G;G)
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WEGENE:rs387906745 9 27212762 AG
Promethease:rs387906745(A;G)
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WEGENE:rs1135824 22 42525044 CC
Promethease:rs1135824(G;G)
我是醉了。 :~(
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https://www.wegene.com/question/610
https://www.wegene.com/question/1046
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