Ocular genetics in the genomics age.
enhancer
regulatory
variant
Journal
American journal of medical genetics. Part C, Seminars in medical genetics
ISSN: 1552-4876
Titre abrégé: Am J Med Genet C Semin Med Genet
Pays: United States
ID NLM: 101235745
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
04
08
2020
revised:
14
08
2020
accepted:
17
08
2020
pubmed:
9
9
2020
medline:
3
6
2021
entrez:
8
9
2020
Statut:
ppublish
Résumé
Current genetic screening methods for inherited eye diseases are concentrated on the coding exons of known disease genes (gene panels, clinical exome). These tests have a variable and often limited diagnostic rate depending on the clinical presentation, size of the gene panel and our understanding of the inheritance of the disorder (with examples described in this issue). There are numerous possible explanations for the missing heritability of these cases including undetected variants within the relevant gene (intronic, up/down-stream and structural variants), variants harbored in genes outside the targeted panel, intergenic variants, variants undetectable by the applied technology, complex/non-Mendelian inheritance, and nongenetic phenocopies. In this article we further explore and review methods to investigate these sources of missing heritability.
Identifiants
pubmed: 32896097
doi: 10.1002/ajmg.c.31844
pmc: PMC8170588
mid: NIHMS1693444
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
860-868Subventions
Organisme : Intramural NIH HHS
ID : ZIA EY000564
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA EY000565
Pays : United States
Informations de copyright
© 2020 Wiley Periodicals LLC.
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