Whole-genome sequencing (WGS) can address many of the technical limitations of other enrichment-based NGS approaches, including improved coverage13,14, and sensitivity for the detection of structural and complex variants15. WGS also enables the identification of noncoding variants, such as pathogenic ...
cDNA synthesis, adapter ligation, PCR amplification, bar-coding, and lane loading) that might introduce biases into the resulting data [196]. Including exogenous reference transcripts (‘spike-ins’) is useful both for quality control [1,197] and for library-size normalization [198]....
To this end, workflow standardization from sample collection and storage through nucleic acid purification and next-generation sequencing (NGS) library preparation is critical in order to compare and combine separate studies in consortium-based approaches at a global scale. Eppendorf, a leading life sci...
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(Fig.2), although alignment-independent methods can also be used. Raw read data should be quality-controlled with tools, such as FASTX-toolkit [56], FASTQC [57] or NGS QC [58], to examine the GC content, base quality score, and the total number of reads sequenced. Reads should be ...
om instabiliteit te voorkomen wanneer de referentiebron snel verandert als gevolg van grote dispersieve vertragingen bij ernstige netwerkcongestie. De peer.config, peer.authenticable en peer.authentieke bits werden toegevoegd om speciale functies te controleren en de configuratie te vereenvoudig...
Virtually, all variant calling tools can be applied to individual samples after alignment and pre-processing are complete. It may be preferable, therefore, to perform variant calling on every sample as it comes through the pipeline. Doing so can facilitate automation of NGS analysis, which may be...
generating sequencing data, and the latter supporting them for bioinformatics analysis and data interpretation, will soon make WGS and targeted NGS the preferred tools to conduct public health surveillances in TB field, thus helping the strategies adopted by TB control programs at local and national ...
NGS: next generation sequencing OMIM: Online Mendelian Inheritance in Man PCR: polymerase chain reaction QC: quality control SNP: single nucleotide polymorphism WES: whole exome sequencing WGS: whole genome sequencing. References Gonzaga-Jauregui C, Lupski JR, Gibbs RA: Human genome sequencin...
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