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The continuum of causality in human genetic disorders.

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.

journal_name

Genome Biol

journal_title

Genome biology

authors

Katsanis N

doi

10.1186/s13059-016-1107-9

subject

Has Abstract

pub_date

2016-11-17 00:00:00

pages

233

issue

1

eissn

1474-7596

issn

1474-760X

pii

10.1186/s13059-016-1107-9

journal_volume

17

pub_type

杂志文章

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