genotype imputation,称之为基因型填充,基本思想是利用单倍型来推断芯片未覆盖到的SNP位点的分型结果,在家系数据和独立样本的分析中都适用。家系样本基因型填充的过程示意如下 ? 以上示意图来自下列文献 Genotype Imputation https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2925172/ 从以上示意图可以看出,基因型填充有两个必要条件
最近测试illumina SNP芯片数据填充的时候发现,原来的数据是会被改变的,觉得这是一个小坑,在这里分享一下。当然,对于看整体的话,应该是影响不大的,毕竟它基本上是按照基因型频率和单倍体型的结果来给的。不过,对于个别比较重要的点,还是影响比较大的,在这里提醒大家注意下。先来看一下几个最主流流程中的版本中的参数情况。
关键词:农业;基因测序;变异检测;文献简介标题(英文):Genome-wide imputation using the practical haplotype graph in the heterozygous
Best Practices 2.3. 1000 Genomes Imputation Cookbook 2.3.1. Before Imputation 2.3.2. Imputation 1. 基因型填充 1.1. 常见imputation的基本逻辑包括两步: 1. 从目标位点/区域非缺失的位点中,总结这个区域的基因型规律,并分类。其实就是分析各个区域的单体型组成; 2. 填充后 (post-imputation) 质控 质控方法可以参照: Verma, S.S. et al. Genet. 5, 370 (2014). 2.3. 1000 Genomes Imputation Cookbook 2.3.1. Before Imputation (1).
得益于分析软件运行速度的不断提高,硬件资源消耗的不断优化,基因型填充这一计算量巨大的任务也出现了web服务,Michigan Imputation Server就是其中之一,网址如下 https://imputationserver.sph.umich.edu 3. pre-phasing and imputation 对于每个chunks, 进行pre-phasing和imputation ?
最近又搜索了下SNP imputation,发现随着中国人多个万人基因组项目的完成,我们自己的参考也已经建立,但是一般只局限在课题组内部,不公开,只提供了在线填充服务。 不过,这也是极好的,如果样本不多可以考虑用一下,暂时发现有3个,基本上都类似于Michigan Imputation Server的模式。 3.10万人汉族基因组计划(The Han100K Initiative) https://www.hanchinesegenomes.org/HCGD/analysis/imputation/introduction
variables: " [1] "Partially obs. variables: x2" [1] "Fully obs. substantive model variables: x1" [1] "Imputation 1" [1] "Imputing: x2 using x1,x1sq plus outcome" [1] "Imputation 2" [1] "Imputation 3" [1] "Imputation 2" [1] "Imputation 3" [1] "Imputation 4" [1] "Imputation 5" Warning message: In smcfcs.core(originaldata 1" [1] "Imputing: x2 using x1,x1sq plus outcome" [1] "Imputation 2" [1] "Imputation 3" [1] "Imputation 2" [1] "Imputation 3" [1] "Imputation 4" [1] "Imputation 5" Warning message: In smcfcs.core(originaldata
variables: " [1] "Partially obs. variables: x2" [1] "Fully obs. substantive model variables: x1" [1] "Imputation missing outcomes using specified substantive model." [1] "Imputing: x2 using x1 plus outcome" [1] "Imputation 2" [1] "Imputation 3" [1] "Imputation 4" [1] "Imputation 5" [1] "Imputation 6" [1] "Imputation 7" [1] "Imputation 8" [1] "Imputation 9" [1] "Imputation 10" Warning message: In smcfcs.core(originaldata
实现这一点的著名的方法称为链式方程多重插补(Multiple Imputation by Chained Equations, MICE):首先使用简单的插补方法填充值,例如均值插补。 is.na(X[,1]),c("X2","X1")], main=paste("Regression Imputation"), cex=0.8, col="darkblue", cex.main=1.5 is.na(X[,1]),c("X2","X1")], main=paste("Gaussian Imputation"), col="darkblue", cex.main=1.5) points( (impnorm))$coefficients["X1"],2) ## beta= 0.71 ## Truth imputation estimate round(lm(X2~X1, data 最后本文引用的论文: What Is a Good Imputation Under MAR Missingness?
= NULL) # if not provide, we will use the default colors p4 四 提升空间图谱精度 开头提到过CARD注释spot外,还提供了CARD.imputation 4.1,imputation 函数推断精度 #1. Imputation on the newly grided spatial locations # CARD_obj = CARD.imputation(CARD_obj,NumGrids = 2000 If not, the user can provide the row names of the excluded spatial location data into the CARD.imputation function location_imputation = cbind.data.frame(x=as.numeric(sapply(strsplit(rownames(CARD_obj@refined_prop
Causal View of Time Series Imputation: Some Identification Results on Missing Mechanism 8. MMNet: Missing-Aware and Memory-Enhanced Network for Multivariate Time Series Imputation 19. General Incomplete Time Series Analysis via Patch Dropping Without Imputation Survey Track 23. Deep Learning for Multivariate Time Series Imputation: A Survey 25. Qi, Zirui Zhuang, Lei Zhang, Jianxin Liao, Jingyu Wang 关键词:预测,多模态,LLM 7 Causal View of Time Series Imputation
load("scRNA.Rdata") # V5 data2.V5版本(需修改代码)sc.metabolism.SeuratV5 <- function (obj, method = "VISION", imputation "REACTOME") { gmtFile <- signatures_REACTOME_metab cat("Your choice is: REACTOME\n") } if (imputation == F) { countexp2 <- countexp } if (imputation == T) { cat("Start imputation... Zero-preserving imputation of scRNA-seq data using low-rank approximation. bioRxiv. doi: https://doi.org method = "AUCell", # VISION、AUCell、ssgsea和gsva imputation
Imputation Imputation就是用每一列的均值/中位数/最大频率的数等去补充缺失值。值得注意的是对于valid的数据而言,fit的时候仍然要用train的数据。
# 自定义sc.metabolism.SeuratV5函数 sc.metabolism.SeuratV5 <- function (obj, method = "VISION", imputation REACTOME") { gmtFile <- signatures_REACTOME_metab cat("Your choice is: REACTOME\n") } if (imputation == F) { countexp2 <- countexp } if (imputation == T) { cat("Start imputation... Zero-preserving imputation of scRNA-seq data using low-rank approximation. bioRxiv. doi: https://doi.org VISION\AUCell \ssgsea \gsva ●imputation允许用户选择在新陈代谢评分前输入数据。 ●ncores是并行计算线程的数量。
"Time_death", "Status_death", "haz_os") clomns <- colnames(data) # create a new dataset for imputation factor(data.impu$Va) data.impu$LaaVa <- factor(data.impu$LaaVa) # see all the default settings for imputation method meth <- impu_default$meth meth # imputation method can be changed manually # imputation # single imputation (m=1) imputation <- mice(data.impu, maxit = 25, m = 1, seed = 1234, pred = pred, meth = meth, print = TRUE) data_single <- mice::complete(imputation, 1) nrow(data_single) summary(data_single
Biobanks_summary_statistics[6] 这是我最近收集的一个可用的 PheWeb 网站和生物样本库项目,在以下文件中列出: Datasets.md [7]生物样本库 summary_statistics Imputation_refer_server.md [7] Datasets.md : https://github.com/zd200572/Biobanks_summary_statistics/blob/main/Datasets.md [8] Imputation_refer_server.md : https://github.com/zd200572/Biobanks_summary_statistics/blob/main/Imputation_refer_server.md
参考: amices/mice: Multivariate Imputation by Chained Equations (github.com)[1] R学习笔记 | mice包:缺失值插补 (qq.com 比如multivariate imputation by chained equations (MICE) 方法: 1-查看缺失值 1.1-基本方法 这里首先利用自带数据集airquality 制造假数据 Flexible Imputation of Missing Data. Chapman & Hall/CRC, Boca Raton, FL. Chapters 1–6, 10. http://www.crcpress.com/product/isbn/978143986824 4-多重填补法 多重填补法(Multiple Imputation Flexible Imputation of Missing Data. Chapman & Hall/CRC, Boca Raton, FL.
init_data.csv') data <- data_exercise summary(data) clomns <- colnames(data) # create a new dataset for imputation factor(data.impu$Va) data.impu$LaaVa <- factor(data.impu$LaaVa) # see all the default settings for imputation method meth <- impu_default$meth meth # imputation method can be changed manually # imputation # single imputation (m=1) imputation <- mice(data.impu, maxit = 25, m = 1, seed = 1234, pred = pred, meth = meth, print = TRUE) data_single <- mice::complete(imputation, 1) nrow(data_single) summary(data_single
数据插补(Imputation): 对于dropout导致的零值,可以使用不同的插补方法来估计基因的真实表达水平。 如果大家的单细胞数量足够多,其实比较推荐Metacells方法,备选项就是Imputation啦,但是Imputation算法实在是太多了。 而且面对10x这样的单细胞转录组技术有95%的0值,大多数Imputation算法表现差强人意。
Trajectory Recovery with Irregular Time Intervals KAMEL: A Scalable BERT-based System for Trajectory Imputation Measurement: An Efficiency Perspective Nuhuo: An Effective Estimation Model for Traffic Speed Histogram Imputation Chen, Gao Cong, Cuauhtemoc Anda 关键词:轨迹恢复,不规则采样 TERI KAMEL: A Scalable BERT-based System for Trajectory Imputation Jensen, Jianzhong Qi 关键词:轨迹相似度计算,效率评估 Nuhuo: An Effective Estimation Model for Traffic Speed Histogram Imputation