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• W2554687533 abstract "Studies of human genetic disorders have traditionally followed a reductionist paradigm. Traits are defined as Mendelian or complex based on family pedigree and population data, whereas alleles are deemed rare, common, benign, or deleterious based on their population frequencies. The availability of exome and genome data, as well as gene and allele discovery for various conditions, is beginning to challenge classic definitions of genetic causality. Here, I discuss recent advances in our understanding of the overlap between rare and complex diseases and the context-dependent effect of both rare and common alleles that underscores the need for revising the traditional categorizations of genetic traits." @default.
• W2554687533 created "2016-11-30" @default.
• W2554687533 creator A5041321997 @default.
• W2554687533 date "2016-11-17" @default.
• W2554687533 modified "2023-10-16" @default.
• W2554687533 title "The continuum of causality in human genetic disorders" @default.
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• W2554687533 doi "https://doi.org/10.1186/s13059-016-1107-9" @default.
• W2554687533 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5114767" @default.
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• W2554687533 hasPublicationYear "2016" @default.
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