Application of genome and exome sequencing to study craniofacial conditions–A primer

Lorri Ann Morford; Veerasathpurush Allareddy; Shankar Rengasamy Venugopalan

doi:10.1053/j.sodo.2024.05.010

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Application of genome and exome sequencing to study craniofacial conditions–A primer

Journal article

Peer reviewed

Application of genome and exome sequencing to study craniofacial conditions–A primer

Lorri Ann Morford, Veerasathpurush Allareddy and Shankar Rengasamy Venugopalan

Seminars in orthodontics, Vol.30(4), pp.422-428

05/31/2024

DOI: 10.1053/j.sodo.2024.05.010

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Abstract

Next Generation Sequencing (NGS) technologies offer affordable ways to study craniofacial growth and development patterns in orthodontic patients, including patients with rare congenital disorders, to learn more about the gene regulatory networks that govern various aspects of craniofacial complex [Display omitted] With the development of Sanger DNA Sequencing in the 1970’s, the scientific community gained a new tool to understand relationships between phenotype and genotype. This methodology allowed one to sequence small regions of DNA in the human genome, but was expensive, time consuming and used radioactive labels; making it impractical to use to study an entire human genome. As technologies improved, DNA amplification by polymerase chain reaction (PCR) in the 1980’s allowed scientists to selectively amplify a targeted DNA sequence. This advancement, along with the utilization of fluorescently–labeled nucleotides significantly influenced the automation of sequencing technology. Today, Next–Generation Sequencing (NGS) can affordably sequence millions of DNA fragments simultaneously and is being used to examine the entire code of the human genome. This capability is revolutionary and offers new hope in identifying key genes involved in numerous craniofacial anomalies.

Next–generation sequencing

Whole–exome sequencing

Whole–genome sequencing

Details

Title: Subtitle: Application of genome and exome sequencing to study craniofacial conditions–A primer
Creators: Lorri Ann Morford - University of Kentucky
Veerasathpurush Allareddy - University of Illinois at Chicago
Shankar Rengasamy Venugopalan - Tufts School of Dental Medicine, One Kneeland Street, Office #1146, Boston, MA 02111, USA
Resource Type: Journal article
Publication Details: Seminars in orthodontics, Vol.30(4), pp.422-428
Publisher: Elsevier Inc
DOI: 10.1053/j.sodo.2024.05.010
ISSN: 1073-8746
eISSN: 1558-4631
Language: English
Electronic publication date: 05/31/2024
Academic Unit: Orthodontics
Record Identifier: 9984649049202771

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