Article

Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis

2021-08-30

Abstract excerpt

Clinical heterogeneity is common in Mendelian disease, but small sample sizes make it difficult to identify specific contributing factors. However, if a rare disease represents the severely affected extreme of a spectrum of phenotypic variation, then modifier effects may be apparent within a larger subset of the population. Analyses that take advantage of this full spectrum could have substantially increased power...

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Literature Corpus work: cdbf89d0-72c7-502a-b40e-04b50e419890
DOI: 10.1101/2021.08.26.21262300

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