The revolution in human monogenic disease mapping
|
Published Version
(PDF 76kB)
89075.pdf. Available under License Creative Commons Attribution 2.5. |
Open access copy at publisher website
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.
Impact and interest:
Citation counts are sourced monthly from Scopus and Web of Science® citation databases.
These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.
Citations counts from the Google Scholar™ indexing service can be viewed at the linked Google Scholar™ search.
Full-text downloads:
Full-text downloads displays the total number of times this work’s files (e.g., a PDF) have been downloaded from QUT ePrints as well as the number of downloads in the previous 365 days. The count includes downloads for all files if a work has more than one.
| ID Code: | 89075 | ||||
|---|---|---|---|---|---|
| Item Type: | Contribution to Journal (Journal Article) | ||||
| Refereed: | Yes | ||||
| ORCID iD: |
|
||||
| Measurements or Duration: | 12 pages | ||||
| DOI: | 10.3390/genes5030792 | ||||
| ISSN: | 2073-4425 | ||||
| Pure ID: | 32747898 | ||||
| Divisions: | Past > QUT Faculties & Divisions > Faculty of Health Past > Institutes > Institute of Health and Biomedical Innovation |
||||
| Copyright Owner: | Consult author(s) regarding copyright matters | ||||
| Copyright Statement: | This work is covered by copyright. Unless the document is being made available under a Creative Commons Licence, you must assume that re-use is limited to personal use and that permission from the copyright owner must be obtained for all other uses. If the document is available under a Creative Commons License (or other specified license) then refer to the Licence for details of permitted re-use. It is a condition of access that users recognise and abide by the legal requirements associated with these rights. If you believe that this work infringes copyright please provide details by email to qut.copyright@qut.edu.au | ||||
| Deposited On: | 16 Oct 2015 00:51 | ||||
| Last Modified: | 01 Mar 2024 15:08 |
Export: EndNote | Dublin Core | BibTeX
Repository Staff Only: item control page
CORE (COnnecting REpositories)
CORE (COnnecting REpositories)