A new strategy for enhancing imputation quality of rare variants from next-generation sequencing data via combining SNP and exome chip data.

Abstract excerpt

BACKGROUND: Rare variants have gathered increasing attention as a possible alternative source of missing heritability. Since next generation sequencing technology is not yet cost-effective for large-scale genomic studies, a widely used alternative approach is imputation. However, the imputation approach may be limited by the low accuracy of the imputed rare variants. To improve imputation accuracy of rare...

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