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Number of citations per year for the bioinformatics software tool ARIEL

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ARIEL specifications


Unique identifier OMICS_24939
Alternative name Accumulation of Rare variants Integrated and Extended Locus-specific test
Software type Application/Script
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Computer skills Advanced
Stability Stable
Maintained Yes


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  • person_outline Eleftheria Zeggini
  • person_outline Jennifer Asimit

Publication for Accumulation of Rare variants Integrated and Extended Locus-specific test

ARIEL citations


The impact of rare and low frequency genetic variants in common disease

Genome Biol
PMCID: 5408830
PMID: 28449691
DOI: 10.1186/s13059-017-1212-4

[…] Burden tests (ARIEL test [], RWAS [], CAST [], CMC method [], MZ Test [], WSS [], aSum [], Step-up [], EREC test [], VT [], KBAC method [], RBT []) collapse information for genetic variants within a predefined func […]


Progress in methods for rare variant association

BMC Genet
PMCID: 4895384
PMID: 26866487
DOI: 10.1186/s12863-015-0316-7

[…] etic region and range from a simple indicator of whether a genetic region contains at least 1 rare variant (eg, CAST [cohort allelic sums test] []), to a sum of the rare variants within a region (eg, ARIEL [accumulation of rare variants integrated and extended locus-specific test] [], CMC [combined multivariate and collapsing] [], and MZ [Morris and Zeggini] []), to a weighted sum of the rare vari […]


Weighted Score Tests Implementing Model Averaging Schemes in Detection of Rare Variants in Case Control Studies

PLoS One
PMCID: 4593572
PMID: 26436424
DOI: 10.1371/journal.pone.0139355

[…] elic Sums Test (CAST) [], Combined Multivariate and Collapsing (CMC) [], Weighted Sum (W-Sum) test of Madsen and Browning [], Kernel Based Adaptive Cluster (KBAC) [], Replication Based Test (RBT) [], ARIEL test [], and EREC test []; (2) methods based on model selection such as Seq-aSum and Seq-aSum-VS approaches [, ], Variable Threshold Test (VT) [], RARECOVER method [], Selective grouping method […]

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ARIEL institution(s)
Wellcome Trust Sanger Institute, Hinxton, UK; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
ARIEL funding source(s)
Supported by the Wellcome Trust (098051).

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