Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels

With the expanded availability of next generation sequencing (NGS)-based clinical genetic tests, clinicians seeking to test patients with Mendelian diseases must weigh the superior coverage of targeted gene panels with the greater number of genes included in whole exome sequencing (WES) when conside...

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Veröffentlicht in:	PloS one 2017-02, Vol.12 (2), p.e0170843-e0170843
Hauptverfasser:	LaDuca, Holly, Farwell, Kelly D, Vuong, Huy, Lu, Hsiao-Mei, Mu, Wenbo, Shahmirzadi, Layla, Tang, Sha, Chen, Jefferey, Bhide, Shruti, Chao, Elizabeth C
Format:	Artikel
Sprache:	eng
Schlagworte:	Analysis Aorta Biology and life sciences Cancer Care and treatment Clinical medicine Computer Simulation Consortia Diagnostic systems DNA Mutational Analysis - methods DNA Mutational Analysis - statistics & numerical data DNA sequencing Dyskinesia Exome Female Gene mutation Gene sequencing Genes Genetic Diseases, Inborn - diagnosis Genetic Diseases, Inborn - genetics Genetic screening Genetic Testing - methods Genetic Testing - statistics & numerical data Genetics Genome, Human Genomes Genomics High-Throughput Nucleotide Sequencing - methods High-Throughput Nucleotide Sequencing - statistics & numerical data Homology Humans Intellectual disabilities Male Marfan syndrome Marfan's syndrome Medical diagnosis Medicine and Health Sciences Mutation Panels Physical Sciences Primary ciliary dyskinesia Research and analysis methods Risk assessment Risk factors Sensitivity analysis Sequence Analysis, DNA - methods Sequence Analysis, DNA - statistics & numerical data
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