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A comprehensive SNP and indel imputability database
Author(s) -
Qing Duan,
Eric Yi Liu,
Damien C. CroteauChonka,
Karen L. Mohlke,
Yun Li
Publication year - 2013
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/bts724
Subject(s) - imputation (statistics) , indel , genome wide association study , genotyping , 1000 genomes project , computer science , data mining , snp , database , computational biology , genetics , genotype , single nucleotide polymorphism , biology , missing data , gene , machine learning
Genotype imputation has become an indispensible step in genome-wide association studies (GWAS). Imputation accuracy, directly influencing downstream analysis, has shown to be improved using re-sequencing-based reference panels; however, this comes at the cost of high computational burden due to the huge number of potentially imputable markers (tens of millions) discovered through sequencing a large number of individuals. Therefore, there is an increasing need for access to imputation quality information without actually conducting imputation. To facilitate this process, we have established a publicly available SNP and indel imputability database, aiming to provide direct access to imputation accuracy information for markers identified by the 1000 Genomes Project across four major populations and covering multiple GWAS genotyping platforms.

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