2016/11/17 by Nicholas Katsanis · 1 citation
Biochemistry, Genetics and Molecular Biology · #Genomics and Rare Diseases #Genetic Associations and Epidemiology #Genomic variations and chromosomal abnormalities
paper · pdf · doi:10.1186/s13059-016-1107-9
openalex publication_date 2016/11/17 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
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.