Premium
Pathogenic variants in non‐protein‐coding sequences
Author(s) -
Makrythanasis P,
Antonarakis SE
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12272
Subject(s) - biology , gene , genetics , genome , human genome , phenotype , computational biology , dna sequencing , coding region , gene prediction
There are approximately 3000 human protein‐coding genes that have been linked with (near) monogenic disorders. This knowledge reflects the past and present focus on protein‐coding genes as the main reservoir of pathogenic variation in the human genome. However, the ‘ Medical Genome ’ includes all the functional genomic elements for which genotypic variability is a source of pathogenic phenotypes. This short review focuses on examples of pathogenic variants in non‐protein‐coding gene regions. It is likely that the evolving methods of DNA sequencing and functional characterization of the genome will enhance our understanding of the contribution by all functional genomic elements in both M endelian and complex phenotypes.