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2016 ; 17
(1
): 233
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The continuum of causality in human genetic disorders
#MMPMID27855690
Katsanis N
Genome Biol
2016[Nov]; 17
(1
): 233
PMID27855690
show ga
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.