single-cell-genetics / cellSNP

Pileup biallelic SNPs from single-cell and bulk RNA-seq data
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AD in cells #19

Open penglbio opened 4 years ago

penglbio commented 4 years ago

对于之前的提问,感谢您的快速回答,这里还有另外一个问题:我想知道的是,为什么会在单个细胞中鉴定SNP会有等位基因频率一说呢,不应该是在一个群体中鉴定SNP的时候才存在等位基因频率? 对于一个基因来说,我以为突变了之后,所有的RNA转录出来的序列都应该是在该位置有突变。 还是说这个AD有其他的含义呢?

For the previous question, thank you for your quick answer. Here is another question: I would like to know why there is allele frequency in the identification of SNP in a single cell. It should not be the allele frequency when identifying SNP in a population? For a gene, I think that after mutation, all RNA transcripts should have mutations at this location. Or does this AD have other meanings?

huangyh09 commented 4 years ago

It is heterozygous genotype, and there are often imbalance in the expression of the two alleles, which refers to the "allele frequency" and has different meaning in population genomics.