Research Data Leeds Repository

Citation

Hany, Ummey and Nikolopoulos, Georgios and Smith, Claire and Watson, Christopher M. and Inglehearn, Chris and Mighell, Alan (2020) Developing a quick, cost-effective genetic screen for enamel disease. University of Leeds. [Dataset] https://doi.org/10.5518/854

Dataset description

Amelogenesis imperfecta (AI) refers to a group of rare, inherited disorders characterised by abnormal enamel formation. According to the AI Leiden Open Variant Database (LOVD) hosted by Leeds University (http://dna2.leeds.ac.uk/LOVD/), there are 19 genes involved in non-syndromic AI that account for >90% of the known AI-causing mutations. Conventionally the identification of inherited gene mutations in a family would be done through family studies. However, with technological improvements and decreasing costs, next generation sequencing (NGS) technology has become the gold standard in the genetic research. Single molecule molecular inversion probe (smMIP) is an NGS based DNA sequencing approach that can selectively target and analyse thousands of genomic positions in a single reaction. It is superior in terms of cost, throughput, scalability, sensitivity, and specificity and can process hundreds of patients simultaneously. To identify mutations in AI patients, an smMIP method was adapted and validated that can be used as a first point of screening for all the future patients. The aim is to make diagnosis quicker for patients with known mutations and to provide extra resources to focus on the discovery of novel gene mutations.

Additional information:	Prize winning poster in the Leeds Doctoral College Showcase: Online Poster Conference 2020
Subjects:	A000 - Medicine & dentistry
Divisions:	Faculty of Medicine and Health > School of Dentistry Faculty of Medicine and Health > School of Medicine
Date deposited:	03 Aug 2020 15:06
URI:	https://archive.researchdata.leeds.ac.uk/id/eprint/721
Additional details Additional details Creators or authors: Creators ORCID Other ID Email Primary affiliation Primary affiliation ID Primary affiliation ID type Secondary affiliation Secondary affiliation ID Secondary affiliation ID type Hany, Ummey https://orcid.org/0000-0002-7331-0777 University of Leeds https://ror.org/024mrxd33 ror Nikolopoulos, Georgios https://orcid.org/0000-0003-3166-8372 University of Leeds https://ror.org/024mrxd33 ror Smith, Claire https://orcid.org/0000-0001-8320-5105 University of Leeds https://ror.org/024mrxd33 ror Watson, Christopher M. https://orcid.org/0000-0003-2371-1844 Leeds Teaching Hospitals NHS Trust https://ror.org/00v4dac24 ror Inglehearn, Chris https://orcid.org/0000-0002-5143-2562 University of Leeds https://ror.org/024mrxd33 ror Mighell, Alan https://orcid.org/0000-0002-9624-6923 University of Leeds https://ror.org/024mrxd33 ror Type of data: Dataset Publication date: 2020 Legal and ethical issues: Image credits: 1. https://www.dreamstime.com/little-family-stock-images-image-free-1122794 (Free photo 1122794 © Marzanna Syncerz - Dreamstime.com) 2. https://www.dreamstime.com/three-happy-boys-free-stock-images-image-free-2989499 (Free photo 2989499 © Marzanna Syncerz - Dreamstime.com) 3. https://www.dreamstime.com/will-hurt-stock-photos-image-free-992073 (Free photo 992073 © Johann Helgason - Dreamstime.com) 4. https://www.dreamstime.com/dna-stock-photo-image-free-8624040 (Free photo 8624040 © Rodolfo Clix - Dreamstime.com) 5. Teeth images from Smith CEL, Poulter JA, Antanaviciute A, Kirkham J, Brookes SJ, Inglehearn CF and Mighell AJ (2017) Amelogenesis Imperfecta; Genes, Proteins, and Pathways. Front. Physiol. 8:435. doi: https://doi.org/10.3389/fphys.2017.00435 © 2017 Smith, Poulter, Antanaviciute, Kirkham, Brookes, Inglehearn and Mighell. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). Resource language: English Metadata language: English Publisher: University of Leeds Copyright holders: © Marzanna Syncerz, © Johann Helgason, © Rodolfo Clix, © 2017 Smith, Poulter, Antanaviciute, Kirkham, Brookes, Inglehearn and Mighell Contact email: U.Hany@leeds.ac.uk Last Modified: 17 Jul 2024 10:18

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