Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

Neurodevelopmental disorders (NDDs) affect more than 3% of children and are attributable to single-gene mutations at more than 1000 loci. Traditional methods yield molecular diagnoses in less than one-half of children with NDD. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) can enabl...

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Bibliografske podrobnosti
izdano v:Sci Transl Med
Main Authors: Soden, Sarah E., Saunders, Carol J., Willig, Laurel K., Farrow, Emily G., Smith, Laurie D., Petrikin, Josh E., LePichon, Jean-Baptiste, Miller, Neil A., Thiffault, Isabelle, Dinwiddie, Darrell L., Twist, Greyson, Noll, Aaron, Heese, Bryce A., Zellmer, Lee, Atherton, Andrea M., Abdelmoity, Ahmed T., Safina, Nicole, Nyp, Sarah S., Zuccarelli, Britton, Larson, Ingrid A., Modrcin, Ann, Herd, Suzanne, Creed, Mitchell, Ye, Zhaohui, Yuan, Xuan, Brodsky, Robert A., Kingsmore, Stephen F.
Format: Artigo
Jezik:Inglês
Izdano: 2014
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4286868/
https://ncbi.nlm.nih.gov/pubmed/25473036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.3010076
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