imputation in genetics 小笔记

1. 来自wiki的定义如下：

Imputation in genetics refers to the statistical inference of unobserved genotypes.[1] It is achieved by using known haplotypes in a population, for instance from the HapMap or the 1000 Genomes Project in humans, thereby allowing to test for association between a trait of interest (e.g. a disease) and experimentally untyped genetic variants, but whose genotypes have been statistically inferred ("imputed").[2] Genotype imputation is usually performed on SNP, the most common kind of genetic variation.

 

2. 读了一篇paper 

https://www.ncbi.nlm.nih.gov/pubmed/25621886  一篇讲 imputation 的文章，common variant 能够较为准确的实现，而对于 minor allele frequency(MAF) < 5% 的较难实现， 增大样本量可以提高imputation 的准确性。个人理解imputation 是一个预测，通过已知的人群数据，预测样本的改为点的基因型（测序可能没有测到这个位点？），欢迎前辈们多批评指正。

 

 

3. 一个Genome 大牛lab     https://jmarchini.org/publications/