Role of whole exome sequencing for unidentified genetic syndromes
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Obstetrics and Gynecology
Reference37 articles.
1. The rise and rise of exome sequencing;Ku;Public Health Genomics,2016
2. Insights into genomics, human biology and disease gleaned from family based genomic studies;Posey;Genet Med,2019
3. A diagnosis for all rare genetic diseases: the horizon and the next frontiers;Boycott;Cell,2019
4. Diagnosing rare diseases after the exome;Fresard;Cold Spring Harbor Molecular Case studies,2018
5. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases;Clark;NPJ Genom Med,2018
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