Medical implications of technical accuracy in genome sequencing

As whole exome sequencing (WES) and whole genome sequencing (WGS) transition from research tools to clinical diagnostic tests, it is increasingly critical for sequencing methods and analysis pipelines to be technically accurate. The Genome in a Bottle Consortium has recently published a set of bench...

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Veröffentlicht in:	Genome medicine 2016-03, Vol.8 (1), p.24-24, Article 24
Hauptverfasser:	Goldfeder, Rachel L, Priest, James R, Zook, Justin M, Grove, Megan E, Waggott, Daryl, Wheeler, Matthew T, Salit, Marc, Ashley, Euan A
Format:	Artikel
Sprache:	eng
Schlagworte:	Analysis Benchmarks Computational Biology - methods Computational Biology - standards Databases, Nucleic Acid DNA sequencing Exome Genetic Variation Genetics, Medical - methods Genetics, Medical - standards Genome, Human Genomes Genomics Genomics - methods Genomics - standards High-Throughput Nucleotide Sequencing - methods High-Throughput Nucleotide Sequencing - standards Humans Nucleotide sequencing Reproducibility of Results
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