'Location, Location, Location': a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palate.

Our derived distance measure yields a highly significant association between affection status and the genomic region, whereas standard collapsing and weighting approaches do not provide significant results. 2 METHODS For the analysis of rare variants, a biologically plausible hypothesis is that alleles of rare variants that have the same type of effect on disease risk, e.g. either deleterious or protective, occur in the same part of the genomic region of interest.

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