Ultra high throughput sequencing in human DNA variation detection: a comparative study on the NDUFA3-PRPF31 region.

Détails

Ressource 1Télécharger: BIB_42A7D6B604D2.P001.pdf (917.40 [Ko])
Etat: Serval
Version: de l'auteur
ID Serval
serval:BIB_42A7D6B604D2
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Ultra high throughput sequencing in human DNA variation detection: a comparative study on the NDUFA3-PRPF31 region.
Périodique
PLoS One
Auteur(s)
Benaglio P., Rivolta C.
ISSN
1932-6203[electronic], 1932-6203[linking]
Statut éditorial
Publié
Date de publication
2010
Peer-reviewed
Oui
Volume
5
Numéro
9
Pages
e13071
Langue
anglais
Résumé
BACKGROUND: Ultra high throughput sequencing (UHTS) technologies find an important application in targeted resequencing of candidate genes or of genomic intervals from genetic association studies. Despite the extraordinary power of these new methods, they are still rarely used in routine analysis of human genomic variants, in part because of the absence of specific standard procedures. The aim of this work is to provide human molecular geneticists with a tool to evaluate the best UHTS methodology for efficiently detecting DNA changes, from common SNPs to rare mutations. METHODOLOGY/PRINCIPAL FINDINGS: We tested the three most widespread UHTS platforms (Roche/454 GS FLX Titanium, Illumina/Solexa Genome Analyzer II and Applied Biosystems/SOLiD System 3) on a well-studied region of the human genome containing many polymorphisms and a very rare heterozygous mutation located within an intronic repetitive DNA element. We identify the qualities and the limitations of each platform and describe some peculiarities of UHTS in resequencing projects. CONCLUSIONS/SIGNIFICANCE: When appropriate filtering and mapping procedures are applied UHTS technology can be safely and efficiently used as a tool for targeted human DNA variations detection. Unless particular and platform-dependent characteristics are needed for specific projects, the most relevant parameter to consider in mainstream human genome resequencing procedures is the cost per sequenced base-pair associated to each machine.
Pubmed
Web of science
Open Access
Oui
Création de la notice
15/10/2010 16:44
Dernière modification de la notice
08/05/2019 17:44
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