The revolution in human monogenic disease mapping

Emma Duncan; Matthew Brown; Eileen M. Shore

doi:10.3390/genes5030792

The revolution in human monogenic disease mapping

Emma Duncan, Matthew Brown, Eileen M. Shore^*

^*Corresponding author for this work

Twin Research & Genetic Epidemiology

Research output: Contribution to journal › Review article › peer-review

19 Citations (Scopus)

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.

Original language	English
Pages (from-to)	792-803
Number of pages	12
Journal	Genes
Volume	5
Issue number	3
DOIs	https://doi.org/10.3390/genes5030792
Publication status	Published - 5 Sept 2014

Keywords

Disease gene discovery
Fibrodysplasia ossificans progressiva
Human genome project
Monogenic diseases
NGS

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10.3390/genes5030792

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AB - 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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KW - NGS

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The revolution in human monogenic disease mapping

Abstract

Keywords

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