SCORE-Seq specifications


Unique identifier OMICS_07455
Name SCORE-Seq
Software type Framework/Library
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Computer skills Advanced
Version 2.0
Stability Stable
Maintained Yes


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Publication for SCORE-Seq

SCORE-Seq in publications

PMCID: 5565923
PMID: 28845244
DOI: 10.1093/ve/vew036.038

[…] n 3.3. individual variants were tested for association using linear regression. testing of the combined effects of multiple low frequency variants across each of  >18,000 genes was performed using score-seq and skat. consistent with previous results, single marker variant tests showed a strong signal of association in the mhc. the top association was observed between spvl and rs1131446 (p = 2.3 […]

PMCID: 4877073
PMID: 27214039
DOI: 10.1371/journal.pone.0156046

[…] hrm results indicating so far unrecognized variants, independent sequencing assays were carried out to confirm the presence of variants., statistical analyses were performed with plink 1.07 [], score-seq 5.2 [] and stata v10.1. (stata corporation, college station, tx, usa). logistic regression analyses adjusted for age, ethnicity and gender were calculated for single variants of the tlr […]

PMCID: 4711949
PMID: 26760041
DOI: 10.1371/journal.pone.0146805

[…] in a meta-analysis using a korean ra gwas, ichip data and their results, however in a gene-based analysis using nonburden tests (optimal sequence kernel association test (skato)) and burden tests (score-seq) vstm1 showed the greatest association with ra. seven nonsynonymous variants of vstm1 were identified. this result indicated that variants of vstm1 is probable associated with ra in korean […]

PMCID: 4197341
PMID: 25277365
DOI: 10.1186/s12863-014-0104-9

[…] available to investigate the role of rare variants, few have evaluated their performance in a case-cohort design., we evaluate several methods, including the sequence kernel association test (skat), score-seq, and weighted (madsen and browning) and unweighted burden tests. using genotypes from the charge targeted-sequencing project for fhs (n = 1096), we simulate phenotypes in a large population […]

PMCID: 3842118
PMID: 23836590
DOI: 10.1002/gepi.21746

[…] false detection rates., analysis was performed using our penalized regression approach perc with rare variant threshold . analysis was also performed in the r package skat [wu et al., ] and in the score-seq software [lin and tang, ]. in skat, we performed four analyses with different prechosen weights based on mafs drawn from the maf distribution: (1) and , the skat default, (2) and , […]

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SCORE-Seq institution(s)
Department of Biostatistics, University of North Carolina, Chapel Hill, NC, USA
SCORE-Seq funding source(s)
Supported by the National Institutes of Health grants R01 CA082659, R37 GM047845, and P01 CA142538.

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