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Discovering missing heritability in whole-genome sequencing data

The gap between heritability estimates from twin studies and those from genotyping array data has puzzled researchers for over a decade. New research suggests that much of the ‘missing’ heritability is due to rare variants that can only be captured by whole-genome sequencing (WGS) data.

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Fig. 1: How mutations give rise to common and rare variants.


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Correspondence to Alexander I. Young.

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Young, A.I. Discovering missing heritability in whole-genome sequencing data. Nat Genet 54, 224–226 (2022).

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