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Table 2 Feature comparison across GWAS online platforms

From: KidneyGPS: a user-friendly web application to help prioritize kidney function genes and variants based on evidence from genome-wide association studies

Feature

KidneyGPS

GWAS Catalog [9]

Open Targets Genetics [10]

HugeAMP [11]

Focus on kidney function

eGFR associations [4]

y (until version 1.3.1)

y

n

y

eGFR associations (Stanzick et al. updated)

y

n

n

n

eGFR associations [32]

n

y

n

y

eGFR associations [5]

n

y

y (lead variants)

y

eQTL/sQTL data (kidney tissue)

y

n

Partly (in coloc)

n

BUN association [4]

For lead variants

y

n

y

eGFRcys association [4]

For lead variants

y

n

y

eGFR in DM versus noDM [26]

y

n

n

n

eGFR over time [25]

For lead variants

n

n

n

Genes with kidney phenotypes in mouse or human

y

Link to OMIMc

Link to open targetsc

Link to MGIc

Genes targeted by kidney disease drugs

y

n

n

n

Search functionality

Gene search

y

y

y

y

Variant search

y

y

y

y

Region search

y

y

n

y

Gene prioritization

Machine learning derived gene scores

n

n

y

y

Filter options for gene prioritization

y

n

n

n

Prioritization per locus

y

n

y

n

Prioritization across loci

y

n

n

n

Features

Protein-relevant variants

y

Partlyb

Integrated but not extractable

y

eQTL data (any tissue)

y

n

Integrated but not extractable

Integrated but not extractable

sQTL data (any tissue)

y

n

n

n

Genes with kidney phenotypes in mouse or human

y for kidney

Link to OMIM

Link to open targetsc

Link to MGI

Drug target information

y

n

Link to open targetsc

n

Genomic and epigenetic features a

Planned

n

y

y

Phewas

Planned

n

y

y

pathway analyses

Planned

n

Link to open targets

y

  1. We compared KidneyGPS with three other post-GWAS platforms. We contrasted search functionalities, approaches to gene prioritization (machine learning derived gene scores or customizable prioritization via filter options to generate lists of genes with specific characteristics) and integrated features
  2. aBinding sites, open-chromatin, enhancer, promotor
  3. bInformation only available when searched for 1 variant (not downloadable, not for lists of variants in a searched region)
  4. cNo focus on kidney phenotype, DM: Diabetes mellitus