The Revolution in Human Monogenic Disease Mapping
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 m...
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| Format: | Online |
| Language: | English |
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MDPI
2014
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198931/ |
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pubmed-41989312014-10-16 The Revolution in Human Monogenic Disease Mapping Duncan, Emma Brown, Matthew Shore, Eileen M. Review 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. MDPI 2014-09-05 /pmc/articles/PMC4198931/ /pubmed/25198531 http://dx.doi.org/10.3390/genes5030792 Text en © 2014 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/). |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Duncan, Emma Brown, Matthew Shore, Eileen M. |
| spellingShingle |
Duncan, Emma Brown, Matthew Shore, Eileen M. The Revolution in Human Monogenic Disease Mapping |
| author_facet |
Duncan, Emma Brown, Matthew Shore, Eileen M. |
| author_sort |
Duncan, Emma |
| title |
The Revolution in Human Monogenic Disease Mapping |
| title_short |
The Revolution in Human Monogenic Disease Mapping |
| title_full |
The Revolution in Human Monogenic Disease Mapping |
| title_fullStr |
The Revolution in Human Monogenic Disease Mapping |
| title_full_unstemmed |
The Revolution in Human Monogenic Disease Mapping |
| title_sort |
revolution in human monogenic disease mapping |
| description |
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. |
| publisher |
MDPI |
| publishDate |
2014 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198931/ |
| _version_ |
1613145376489996288 |