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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 in publications

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

[…] information across multiple rare variants within a specific genomic functional unit (e.g. gene, exon). rare variant region-based methods can be grouped in four broad categories (tableĀ ).table 1 ariel accumulation of rare variants integrated and extended locus-specific, asum data-adaptive sum test, cast cohort allelic sums test, cmc combined multivariate and collapsing, ec exponential […]

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

[…] 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 variants […]

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

[…] 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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