Author:
Matushyn Mykyta,Bose Madhuchanda,Mahmoud Abdallah Amr,Cuthbertson Lewis,Tello Carlos,Bircan Karatuğ Ozan,Terpolovsky Andrew,Bamunusinghe Varuna,Khan Umar,Novković Biljana,Grabherr Manfred G.,Yazdi Puya G.
Abstract
Abstract
Background
Generating polygenic risk scores for diseases and complex traits requires high quality GWAS summary statistic files. Often, these files can be difficult to acquire either as a result of unshared or incomplete data. To date, bioinformatics tools which focus on restoring missing columns containing identification and association data are limited, which has the potential to increase the number of usable GWAS summary statistics files.
Results
SumStatsRehab was able to restore rsID, effect/other alleles, chromosome, base pair position, effect allele frequencies, beta, standard error, and p-values to a better extent than any other currently available tool, with minimal loss.
Conclusions
SumStatsRehab offers a unique tool utilizing both functional programming and pipeline-like architecture, allowing users to generate accurate data restorations for incomplete summary statistics files. This in turn, increases the number of usable GWAS summary statistics files, which may be invaluable for less researched health traits.
Publisher
Springer Science and Business Media LLC
Subject
Applied Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Structural Biology
Cited by
5 articles.
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