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SingHer

Estimates heritability explained by singleton genetic variants. Also fits singleton mean effects.

When singletons have zero mean effect, singher is equivalent to the standard linear mixed model in genetics when the kinship matrix is constructed only from singletons. No non-singleton heritability is modelled.

For details, see the Supplement for:

R Hernandez, L Uricchio, K Hartman, C Ye, A Dahl, N Zaitlen. (2019) Ultrarare variants drive substantial cis heritability of human gene expression. Nature Genetics.

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Singleton-based heritability estimation

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