Evidence map›Paper›PMID 36284273›Full record

ArticleBMC bioinformatics2022

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

Mykyta Matushyn, Madhuchanda Bose, Abdallah Amr Mahmoud, Lewis Cuthbertson, Carlos Tello, Karatuğ Ozan Bircan, Andrew Terpolovsky, Varuna Bamunusinghe, Umar Khan, Biljana Novković and 2 more

Abstract read
In one paragraph

Article in BMC bioinformatics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Mykyta MatushynSelfDecode.Com, 1031 Ives Dairy Road Suite 228 - 1047, Miami, FL, 33179, USA.
Madhuchanda BoseSelfDecode.Com, 1031 Ives Dairy Road Suite 228 - 1047, Miami, FL, 33179, USA.
Abdallah Amr MahmoudSelfDecode.Com, 1031 Ives Dairy Road Suite 228 - 1047, Miami, FL, 33179, USA.
Lewis CuthbertsonSelfDecode.Com, 1031 Ives Dairy Road Suite 228 - 1047, Miami, FL, 33179, USA.
Carlos TelloSelfDecode.Com, 1031 Ives Dairy Road Suite 228 - 1047, Miami, FL, 33179, USA.
Karatuğ Ozan BircanSelfDecode.Com, 1031 Ives Dairy Road Suite 228 - 1047, Miami, FL, 33179, USA.
Andrew TerpolovskySelfDecode.Com, 1031 Ives Dairy Road Suite 228 - 1047, Miami, FL, 33179, USA.
Varuna BamunusingheSelfDecode.Com, 1031 Ives Dairy Road Suite 228 - 1047, Miami, FL, 33179, USA.
Umar KhanSelfDecode.Com, 1031 Ives Dairy Road Suite 228 - 1047, Miami, FL, 33179, USA.
Biljana NovkovićSelfDecode.Com, 1031 Ives Dairy Road Suite 228 - 1047, Miami, FL, 33179, USA.
Manfred G GrabherrSelfDecode.Com, 1031 Ives Dairy Road Suite 228 - 1047, Miami, FL, 33179, USA.
Puya G YazdiSelfDecode.Com, 1031 Ives Dairy Road Suite 228 - 1047, Miami, FL, 33179, USA. puya@selfdecode.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGenerating 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.

resultsSumStatsRehab 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.

conclusionsSumStatsRehab 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.

Indexed as

Genome-Wide Association StudyPolymorphism, Single NucleotideAlgorithmsMultifactorial InheritancePhenotypeBioinformaticsGeneticsGWASPRSSummary statistics

Identifiers

PMID36284273
PMCPMC9594936

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.