Details

Autor(en) / Beteiligte

• Matushyn, Mykyta
• Bose, Madhuchanda
• Mahmoud, Abdallah Amr
• Cuthbertson, Lewis
• Tello, Carlos
• Bircan, KaratuÄ Ozan
• Terpolovsky, Andrew
• Bamunusinghe, Varuna
• Khan, Umar
• NovkoviÄ, Biljana
• Grabherr, Manfred G
• Yazdi, Puya G

Titel

SumStatsRehab: an efficient algorithm for GWAS summary statistics assessment and restoration

Ist Teil von

• BMC bioinformatics, 2022-10, Vol.23 (1), p.1-443, Article 443

Ort / Verlag

London: BioMed Central Ltd

Erscheinungsjahr

2022

Link zum Volltext

Quelle

SpringerLink (Online service)

Beschreibungen/Notizen

• 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. 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. 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.