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PheWAS software tools| Genotype-phenotype interactions

The genome-wide association study (GWAS) is a powerful approach for studying the genetic complexities of human disease. Unfortunately, GWASs often fail to identify clinically significant associations and describing function can be a challenge. GWAS…
PheWAS catalog
Dataset

PheWAS catalog

Contains the PheWAS results for 3,144 single-nucleotide polymorphisms (SNPs)…

Contains the PheWAS results for 3,144 single-nucleotide polymorphisms (SNPs) present in the NHGRI GWAS Catalog as of 4/17/2012 in 13,835 European-ancestry individuals from five sites of the…

PheWAS
Desktop

PheWAS

An algorithm to facilitate the performance of phenome-wide associated studies…

An algorithm to facilitate the performance of phenome-wide associated studies to detect disease–gene associations using ICD9 billing codes. This proof of concept study applied this algorithm to…

SPAtest
Desktop

SPAtest

Performs a score test for a single variant based on saddlepoint approximation…

Performs a score test for a single variant based on saddlepoint approximation single variant test in genetic associations. SPAtest is an R package implements in the fastspa package that can accurate…

PHESANT
Desktop

PHESANT PHEnome Scan ANalysis Tool

Performs comprehensive phenome scans in UK Biobank, a prospective cohort of…

Performs comprehensive phenome scans in UK Biobank, a prospective cohort of over 500 000 men and women in the UK aged between 37-73 years. PHESANT tests the association of a specified trait with all…

PheWAS-View
Web
Desktop

PheWAS-View

A software that visually integrates PheWAS results, including information about…

A software that visually integrates PheWAS results, including information about the SNPs, relevant genes, phenotypes, and the interrelationships between phenotypes, that exist in PheWAS. PheWAS-View…

GenAMap
Desktop

GenAMap

An interactive analytics software platform that 1) automates the execution of…

An interactive analytics software platform that 1) automates the execution of principled machine learning methods that detect genome- and phenome-wide associations among genotypes, gene expression…

PheWeb
Web
Desktop

PheWeb

Provides a tool for building PheWAS websites from association files. Results…

Provides a tool for building PheWAS websites from association files. Results displayed in this PheWeb include genome-wide associations for EHR-derived ICD-9 billing codes from participants of the…

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