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7427848 
Journal Article 
The continuum of causality in human genetic disorders 
Katsanis, N; , 
2016 
Yes 
Genome Biology
ISSN: 1474-7596
EISSN: 1474-760X 
Springer International Publishing 
Cham 
Essentials of Anatomic Pathology 
595-663 
English 
27855690 
WOS:000389375300003 
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.