The revolution in human monogenic disease mapping

Duncan, Emma, Brown, Matthew and Shore, Eileen M. (2014) The revolution in human monogenic disease mapping. Genes, 5 3: 792-803. doi:10.3390/genes5030792

Author Duncan, Emma
Brown, Matthew
Shore, Eileen M.
Title The revolution in human monogenic disease mapping
Journal name Genes   Check publisher's open access policy
ISSN 2073-4425
Publication date 2014-09
Year available 2014
Sub-type Critical review of research, literature review, critical commentary
DOI 10.3390/genes5030792
Open Access Status DOI
Volume 5
Issue 3
Start page 792
End page 803
Total pages 12
Place of publication Basel, Switzerland
Publisher M D P I AG
Collection year 2015
Language eng
Abstract 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.
Keyword Human Genome Project
Fibrodysplasia ossificans progressiva
Monogenic diseases
Disease gene discovery
Van Buchem disease
Imperfecta type v
Osteogenesis imperfecta
Recurrent mutation
Wnt1 mutations
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Official 2015 Collection
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 5 times in Thomson Reuters Web of Science Article | Citations
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