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Article

Strategies in Aggregation Tests for Rare Variants.

Current protocols - 1 Nov 2023

Rajabli Farid, Kunkle Brian W

Abstract excerpt

Genome-wide association studies (GWAS) successfully identified numerous common variants involved in complex diseases, but only limited heritability was explained by these findings. Advances in high-throughput sequencing technology made it possible to assess the contribution of rare variants in common diseases. However, study of rare variants introduces challenges due to low frequency of rare variants....

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PMID: 37988228
DOI: 10.1002/cpz1.931

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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