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Software Application Profile: RVPedigree: a suite of family-based rare variant association tests for normally and non-normally distributed quantitative traits
被引:2
|作者:
Oualkacha, Karim
[1
]
Lakhal-Chaieb, Lajmi
[2
]
Greenwood, Celia M. T.
[3
,4
,5
,6
,7
,8
]
机构:
[1] Univ Quebec, Dept Math, Montreal, PQ H3C 3P8, Canada
[2] Univ Laval, Dept Math & Stat, Quebec City, PQ, Canada
[3] McGill Univ, Jewish Gen Hosp, Lady Davis Inst, Montreal, PQ H3T 1E2, Canada
[4] McGill Univ, Dept Oncol, Montreal, PQ, Canada
[5] McGill Univ, Dept Epidemiol, Montreal, PQ, Canada
[6] McGill Univ, Dept Biostat & Occupat Hlth, Montreal, PQ, Canada
[7] McGill Univ, Dept Human Genet, Montreal, PQ, Canada
[8] Ludmer Ctr Neuroinformat & Mental Hlth, Montreal, PQ, Canada
基金:
加拿大健康研究院;
关键词:
pedigrees;
kinship;
mixed models;
kernel tests;
kurtosis;
region-based tests;
SEQUENCE;
SAMPLES;
D O I:
10.1093/ije/dyw047
中图分类号:
R1 [预防医学、卫生学];
学科分类号:
1004 ;
120402 ;
摘要:
Motivation: RVPedigree (Rare Variant association tests in Pedigrees) implements a suite of programs facilitating genome-wide analysis of association between a quantitative trait and autosomal region-based genetic variation. The main features here are the ability to appropriately test for association of rare variants with non-normally distributed quantitative traits, and also to appropriately adjust for related individuals, either from families or from population structure and cryptic relatedness. Implementation: RVPedigree is available as an R package. General features: The package includes calculation of kinship matrices, various options for coping with non-normality, three different ways of estimating statistical significance incorporating triaging to enable efficient use of the most computationally-intensive calculations, and a parallelization option for genome-wide analysis. Availability: The software is available from the Comprehensive R Archive Network [CRAN.R-project.org] under the name 'RVPedigree' and at [https://github.com/GreenwoodLab]. It has been published under General Public License (GPL) version 3 or newer.
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页码:402 / 407
页数:6
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