Clinical application of tumour-in-normal contamination assessment from whole genome sequencing
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Researchers are exploring the clinical application of assessing tumour-in-normal contamination from whole genome sequencing, with various studies and tools being developed to improve tumor variant calling and mutation burden estimation. New machine learning methods and comprehensive assessments are being investigated to support whole genome sequencing analysis for cancer. The studies cover a range of topics, including somatic small variant calling, DNA methylation biomarkers, and the feasibility of whole genome and transcriptome profiling in different types of cancer.
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