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Article
Open AccessSample-Index Misassignment Impacts Tumour Exome Sequencing
Sample pooling enabled by dedicated indexes is a common strategy for cost-effective and robust high-throughput sequencing. Index misassignment leading to mutual contamination between pooled samples has however...
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Article
Open AccessThe rainfall plot: its motivation, characteristics and pitfalls
A visualization referred to as rainfall plot has recently gained popularity in genome data analysis. The plot is mostly used for illustrating the distribution of somatic cancer mutations along a reference geno...
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Article
Open AccessUse of liquid biopsies to monitor disease progression in a sarcoma patient: a case report
Many patients experience local recurrence or metastases after receiving potentially curative treatment, and early detection of these events is important for disease control. Recent technological advances make ...
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Article
Open AccessA comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing
As whole-genome sequencing for cancer genome analysis becomes a clinical tool, a full understanding of the variables affecting sequencing analysis output is required. Here using tumour-normal sample pairs from...
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Article
Open AccessPerformance comparison of four exome capture systems for deep sequencing
Recent developments in deep (next-generation) sequencing technologies are significantly impacting medical research. The global analysis of protein coding regions in genomes of interest by whole exome sequencin...
