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README.md

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HERE we are maintaining an newly improved stable version of SAIGE and SAIGE-GENE+.
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Please find the https://saigegit.github.io/SAIGE-doc/ for documentation.
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SAIGE is an R package developed with Rcpp for genome-wide association tests in large-scale data sets and biobanks. The method
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- accounts for sample relatedness based on the generalized mixed models
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- allows for model fitting with either full or sparse genetic relationship matrix (GRM)
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- works for quantitative and binary traits
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- handles case-control imbalance of binary traits
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- computationally efficient for large data sets
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- performs single-variant association tests
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- provides effect size estimation through Firth's Bias-Reduced Logistic Regression
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- performs conditional association analysis
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SAIGE-GENE (now known as SAIGE-GENE+) are new method extension in the R package for testing rare variant in set-based tests.
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- performs BURDEN, SKAT, and SKAT-O tests
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- allows for tests on multiple minor allele frequencies cutoffs and functional annotations
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- allows for specifying weights for markers in the set-based tests
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- performs conditional analysis to identify associations independent from nearly GWAS signals
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The package takes genotype file input in the following formats
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- PLINK (bed, bim, fam), BGEN, VCF, BCF, SAV
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This fork of [SAIGE](https://github.com/saigegit/SAIGE) is a proof-of-concept that supports reading variant calling data stored in the [VCF Zarr](https://github.com/sgkit-dev/vcf-zarr-spec) format. The changes are merged in this [pull request](https://github.com/Will-Tyler/SAIGE-VCZ/pull/1). To learn more about VCF Zarr, see the [paper](https://doi.org/10.1101/2024.06.11.598241).
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SAIGE is an R package developed with Rcpp for genome-wide association tests in large-scale data sets and biobanks.

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