Evidence map›Paper›PMID 30634901›Full record

ArticleBMC bioinformatics2019

Manhattan Harvester and Cropper: a system for GWAS peak detection.

Toomas Haller, Tõnis Tasa, Andres Metspalu

Abstract read
In one paragraph

Article in BMC bioinformatics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

3 authors.

Toomas HallerEstonian Genome Center, Institute of Genomics, University of Tartu, 23b Riia Street, 51010, Tartu, Estonia. Toomas.Haller@ut.ee.ORCID http://orcid.org/0000-0002-5069-6523
Tõnis TasaInstitute of Computer Science, University of Tartu, Juhan Liivi 2, 50409, Tartu, Estonia.
Andres MetspaluEstonian Genome Center, Institute of Genomics, University of Tartu, 23b Riia Street, 51010, Tartu, Estonia.

Funding

Cell Interactions in the Inflamed Intestinal MucosaR01DK075787 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI JOEL N HIRSCHHORN · 2007 to 2026
$13.1M
Estonian Center of Genomics/Roadmap II 2014-2020.4.01.16-0125Estonian Government IUT20-60EU H2020 grant 633589EU H2020 grant ePerMed 692145European Regional Development Fund 2014-2020.4.01.15-0012NIDDK NIH HHS R01 DK075787US National Institute of Health R01DK075787
6 · The paper itself

Abstract

backgroundSelection of interesting regions from genome wide association studies (GWAS) is typically performed by eyeballing of Manhattan Plots. This is no longer possible with thousands of different phenotypes. There is a need for tools that can automatically detect genomic regions that correspond to what the experienced researcher perceives as peaks worthwhile of further study.

resultsWe developed Manhattan Harvester, a tool designed for "peak extraction" from GWAS summary files and computation of parameters characterizing various aspects of individual peaks. We present the algorithms used and a model for creating a general quality score that evaluates peaks similarly to that of a human researcher. Our tool Cropper utilizes a graphical interface for inspecting, cropping and subsetting Manhattan Plot regions. Cropper is used to validate and visualize the regions detected by Manhattan Harvester.

conclusionsWe conclude that our tools fill the current void in automatically screening large number of GWAS output files in batch mode. The interesting regions are detected and quantified by various parameters by Manhattan Harvester. Cropper offers graphical tools for in-depth inspection of the regions. The tools are open source and freely available.

Indexed as

Computer GraphicsData Interpretation, StatisticalSoftwareData MiningGenome-Wide Association StudyGenomicsHumansPhenotypePolymorphism, Single NucleotideGWASManhattan plotsPeak detectionPeak quality scoreSoftware

Identifiers

PMID30634901
PMCPMC6330393

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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.