Article
Contribution of Common Genetic Variants to Familial Aggregation of Disease and Implications for Sequencing Studies.
PLoS genetics - 1 Nov 2019
Schlafly Andrew, Pfeiffer Ruth M, Nagore Eduardo, Puig Susana, Calista Donato, Ghiorzo Paola, Menin Chiara, Fargnoli Maria Concetta, Peris Ketty, Song Lei, Zhang Tongwu, Shi Jianxin, Landi Maria Teresa, Sampson Joshua Neil
Abstract excerpt
Despite genetics being accepted as the primary cause of familial aggregation for most diseases, it is still unclear whether afflicted families are likely to share a single highly penetrant rare variant, many minimally penetrant common variants, or a combination of the two types of variants. We therefore use recent estimates of SNP heritability and the liability threshold model to estimate the proportion of...
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