Efficient identification of rare variants in large populations: deep re-sequencing the CRP locus in the CARDIA study.

Abstract excerpt

Effect sizes of many common single nucleotide polymorphisms identified in genome-wide association studies generally explain only a modest fraction of the total estimated heritability in a variety of traits. One hypothesis is that rare variants with larger effects might account for the missing heritability. Despite advances in sequencing technology, discovering rare variants in a large population is still...

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