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Clustering Of Rare Variants For Causal Variants Identification And Effect Direction Classification

2024-02-23 genetic and genomic medicine Title + abstract only
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Several gene-based tests, e.g., sequence kernel association test, have been developed for association testing of rare single nucleotide variants (SNVs) in genomic regions with disease traits. A common limitation of these aggregate methods is their inability to discriminate potentially causal variants from null variants within the tested regions. We propose a novel clustering method to classify rare variants into null and signal variant groups using summary statistics from the gene-based tests ba...

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