Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer.

Détails

ID Serval
serval:BIB_F19963999657
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer.
Périodique
Cellular and Molecular Life Sciences
Auteur(s)
Royer-Bertrand B., Rivolta C.
ISSN
1420-9071 (Electronic)
ISSN-L
1420-682X
Statut éditorial
Publié
Date de publication
2015
Peer-reviewed
Oui
Volume
72
Numéro
8
Pages
1463-1471
Langue
anglais
Notes
Publication types: Journal Article Publication Status: ppublish, pdf : review
Résumé
The past decade has seen the emergence of next-generation sequencing (NGS) technologies, which have revolutionized the field of human molecular genetics. With NGS, significant portions of the human genome can now be assessed by direct sequence analysis, highlighting normal and pathological variants of our DNA. Recent advances have also allowed the sequencing of complete genomes, by a method referred to as whole genome sequencing (WGS). In this work, we review the use of WGS in medical genetics, with specific emphasis on the benefits and the disadvantages of this technique for detecting genomic alterations leading to Mendelian human diseases and to cancer.
Pubmed
Web of science
Création de la notice
18/04/2015 13:26
Dernière modification de la notice
03/03/2018 22:38
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