Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Pratibha NairSandra SabbaghHicham MansourAli FawazGhassan HmaimessPeter NounRawane DagherHala MegarbaneSayeeda HanaSaada AlameMaher LamaaDana HasbiniRoula FarahMariam RajabSamantha StoraOulfat El-TourjumanPauline Abou JaoudeGihad E ChalouhiRony SayadAnne-Celine GillartMahmoud Al-AliValerie DelagueStephany El-HayekAndre Megarbane

Published in: Molecular genetics & genomic medicine (2018)

Our study thus suggests that NGS tools are valuable for an improved clinical diagnosis, and highlights that the increased adoption of such techniques will significantly further improve our understanding of the genetic basis of inherited diseases in Lebanon.

Keyphrases

copy number
healthcare
primary care
genome wide
dna methylation