The revolution in human monogenic disease mapping

Duncan, Emma, Brown, Matthew, & Shore, Eileen M. (2014) The revolution in human monogenic disease mapping. Genes, 5(3), pp. 792-803.

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The successful completion of the Human Genome Project (HGP) was an unprecedented scientific advance that has become an invaluable resource in the search for genes that cause monogenic and common (polygenic) diseases. Prior to the HGP, linkage analysis had successfully mapped many disease genes for monogenic disorders; however, the limitations of this approach were particularly evident for identifying causative genes in rare genetic disorders affecting lifespan and/or reproductive fitness, such as skeletal dysplasias. In this review, we illustrate the challenges of mapping disease genes in such conditions through the ultra-rare disorder fibrodysplasia ossificans progressiva (FOP) and we discuss the advances that are being made through current massively parallel (“next generation”) sequencing (MPS) technologies.

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5 citations in Scopus
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4 citations in Web of Science®

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ID Code: 89075
Item Type: Journal Article
Refereed: Yes
Keywords: Disease gene discovery, Fibrodysplasia ossificans progressiva, Human genome project, Monogenic diseases, NGS, bone dysplasia, DNA sequence, fibrous dysplasia, gene mapping, genetic linkage, genetic variability, human, massive parallel sequencing, monogenic disorder, next generation sequencing, osteogenesis imperfecta, osteoporosis, Review, RNA sequence, sequence analysis, whole exome sequencing, whole genome sequencing
DOI: 10.3390/genes5030792
ISSN: 2073-4425
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 16 Oct 2015 00:51
Last Modified: 21 Mar 2016 00:22

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