Clinical sequencing: is WGS the better WES?

Current clinical next-generation sequencing is done by using gene panels and exome analysis, both of which involve selective capturing of target regions. However, capturing has limitations in sufficiently covering coding exons, especially GC-rich regions. We compared whole exome sequencing (WES) wit...

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Veröffentlicht in:	Human genetics 2016-03, Vol.135 (3), p.359-362
Hauptverfasser:	Meienberg, Janine, Bruggmann, Rémy, Oexle, Konrad, Matyas, Gabor
Format:	Artikel
Sprache:	eng
Schlagworte:	Bioinformatics Biomedical and Life Sciences Biomedicine DNA sequencing Exome Exons Female Gene Function Genes Genome, Human Genomes Genomics High-Throughput Nucleotide Sequencing Human Genetics Humans Metabolic Diseases Molecular Medicine Mutation Nucleotide sequencing Open Reading Frames Sequence Analysis, DNA Short Report
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