Genetic Modifiers and Rare Mendelian Disease.
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ABSTRACT:
SUBMITTER: Rahit KMTH
PROVIDER: S-EPMC7140819 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Publications
Genetic Modifiers and Rare Mendelian Disease.
Rahit K M Tahsin Hassan KMTH Tarailo-Graovac Maja M
Genes 20200225 3
Despite advances in high-throughput sequencing that have revolutionized the discovery of gene defects in rare Mendelian diseases, there are still gaps in translating individual genome variation to observed phenotypic outcomes. While we continue to improve genomics approaches to identify primary disease-causing variants, it is evident that no genetic variant acts alone. In other words, some other variants in the genome (genetic modifiers) may alleviate (suppress) or exacerbate (enhance) the sever ...[more]
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