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Mashup Score: 48Assay Validation of Cell-Free DNA Shallow Whole-Genome Sequencing to Determine Tumor Fraction in Advanced Cancers - 2 month(s) ago
Blood-based liquid biopsy is increasingly used in clinical care of patients with cancer, and fraction of tumor-derived DNA in circulation (tumor fraction; TFx) has demonstrated clinical validity across multiple cancer types. To determine TFx, shallow whole-genome sequencing of cell-free DNA (cfDNA) can be performed from a single blood sample, using an established computational pipeline (ichorCNA), without prior knowledge of tumor mutations, in a highly cost-effective manner. We describe assay validation of this approach to facilitate broad clinical application, including evaluation of assay sensitivity, precision, repeatability, reproducibility, pre-analytic factors, and DNA quality/quantity.
Source: www.jmdjournal.orgCategories: General Medicine News, Hem/OncsTweet
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Mashup Score: 4Next-Generation Sequencing–Based Diagnosis of Unexplained Inherited Hemolytic Anemias Reveals Wide Genetic and Phenotypic Heterogeneity - 4 month(s) ago
Determination of the cause of inherited hemolysis is based on clinical and stepwise conventional laboratory tests. Patients with obscure etiology require genetic diagnosis, which is time-consuming, expensive, and laborious, mainly because of numerous causal genes. This study enrolled 43 patients with clinical and laboratory evidence of unexplained hemolytic anemia. Initially, 13 patients were tested using a commercial (TruSight One) panel, and remaining cases underwent targeted sequencing using a customized 55-gene panel.
Source: www.jmdjournal.orgCategories: General Medicine News, Hem/OncsTweet
ctDNA 'tumor fraction' is a simple concept & remains a relevant biomarker in diverse cancers. @broadinstitute Genomics Platform & @StoverLab validated shallow WGS assay sensitivity, precision, repeat-/reproducibility, & pre-analytic factors - in @JMDiagn https://t.co/drKNlYegDQ https://t.co/Eyq1yK7mdU