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Empowering GWAS Discovery through Enhanced Genotype Imputation

2023-12-19 genetic and genomic medicine Title + abstract only
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MotivationGenotype imputation is a powerful tool for inferring missing genotype data in large-scale genomic studies. Over the last two decades, multiple research groups have developed a number of imputation algorithms, which continue improving in speed and overall accuracy. However, accurate imputation of rare and infrequent variants remains a challenge. ResultsHere we present Selphi, a novel genotype imputation algorithm based on the Positional Burrow Wheeler Transform (PBWT) and a new heurist...

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