Assessing the contribution family data can make to case-control studies of rare variants.

Abstract excerpt

When pathogenic variants are rare then even among cases the proportion of subjects possessing a variant might be low, meaning that very large samples might be required to conclusively demonstrate evidence of an effect. Relatives of subjects within a case-control sample might provide useful additional information. The method of model-free linkage analysis implemented in MFLINK was adapted to incorporate linkage...

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