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The Revolution in Human Monogenic Disease Mapping

University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, 37 Kent Road, Woolloongabba, Brisbane 4102, Queensland, Australia
Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Herston 4029, Queensland, Australia
Center for Research in FOP and Related Disorders, Department of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, 3450 Hamilton Walk, Philadelphia, PA 19104, USA
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Curie Boulevard, Philadelphia, PA 19104, USA
Author to whom correspondence should be addressed.
Genes 2014, 5(3), 792-803;
Received: 8 August 2014 / Revised: 29 August 2014 / Accepted: 1 September 2014 / Published: 5 September 2014
(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
PDF [83 KB, uploaded 5 September 2014]


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. View Full-Text
Keywords: Human Genome Project; fibrodysplasia ossificans progressiva; monogenic diseases; disease gene discovery; NGS Human Genome Project; fibrodysplasia ossificans progressiva; monogenic diseases; disease gene discovery; NGS
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).
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Duncan, E.; Brown, M.; Shore, E.M. The Revolution in Human Monogenic Disease Mapping. Genes 2014, 5, 792-803.

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