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Ocular genetics in the genomics age
Author(s) -
Walter Michael A.,
Rezaie Tayebeh,
Hufnagel Robert B.,
Arno Gavin
Publication year - 2020
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31844
Subject(s) - phenocopy , genetics , mendelian inheritance , biology , heritability , genomics , missing heritability problem , exome sequencing , gene , omim : online mendelian inheritance in man , exome , locus (genetics) , inheritance (genetic algorithm) , genetic architecture , copy number variation , disease , quantitative trait locus , phenotype , genome , single nucleotide polymorphism , medicine , genotype , pathology
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.