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Gene Hunting Approaches through the Combination of Linkage Analysis with Whole-Exome Sequencing in Mendelian Diseases: From Darwin to the Present Day

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dc.contributor.authorSusgun, Seda
dc.contributor.authorKasan, Koray
dc.contributor.authorYucesan, Emrah
dc.contributor.institutionauthorSÜSGÜN, SEDA
dc.contributor.institutionauthorYÜCESAN, EMRAH
dc.date.accessioned2021-07-10T20:59:05Z
dc.date.available2021-07-10T20:59:05Z
dc.date.issued2021-07-08T00:00:00Z
dc.description.abstractBackground: In the context of medical genetics, gene hunting is the process of identifying and functionally characterizing genes or genetic variations that contribute to disease phenotypes. In this review, we would like to summarize gene hunting process in terms of historical aspects from Darwin to now. For this purpose, different approaches and recent developments will be detailed. Summary: Linkage analysis and association studies are the most common methods in use for explaining the genetic background of hereditary diseases and disorders. Although linkage analysis is a relatively old approach, it is still a powerful method to detect disease-causing rare variants using family-based data, particularly for consanguineous marriages. As is known that, consanguineous marriages or endogamy poses a social problem in developing countries, however, this same condition also provides a unique opportunity for scientists to identify and characterize pathogenic variants. The rapid advancements in sequencing technologies and their parallel implementation together with linkage analyses now allow us to identify the candidate variants related to diseases in a relatively short time. Furthermore, we can now go one step further and functionally characterize the causative variant through in vitro and in vivo studies and unveil the variant-phenotype relationships on a molecular level more robustly. Key Messages: Herein, we suggest that the combined analysis of linkage and exome analysis is a powerful and precise tool to diagnose clinically rare and recessively inherited conditions.
dc.identifier.doi10.1159/000517102
dc.identifier.pubmed34237751
dc.identifier.urihttp://hdl.handle.net/20.500.12645/29047
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectGene hunting
dc.subjectLinkage analysis
dc.subjectConsanguineous marriages
dc.subjectMendelian diseases
dc.subjectWhole-exome sequencing
dc.titleGene Hunting Approaches through the Combination of Linkage Analysis with Whole-Exome Sequencing in Mendelian Diseases: From Darwin to the Present Day
dc.typeArticle
dspace.entity.typePublication
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local.publication.goal17 - Amaçlar için Ortaklıklar
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