New draft item
View DatasetDescription
NGS facilities dedicated for clinical genomics need high QCstandards, and they need continuously keeping track of their experiments andtheir metrics. As part of the Medical Genomics Visualization toolset (MGviz) wehave developed an interactive software suit with R-Shiny and Python (Bokeh,crossfilter, flask and ReportLab) for automatic reports of QC for the whole NGSexperiments in clinical diagnostics labs. The tool allows comparison of thecurrent experiment with historic data to see the performance of the sequencher,checking different metrics for coverage and variations, warning for large copynumber regions In addition it remembers decisions over annotations, helps invariant prioritization, segregation and finding compound heterozygotes and makeautomatic historical reports of pathogenic variants informed by the lab.
Citations (0)
No citations found
Mentions (0)
No mentions found
Metrics Over Time
Publication Details
Subfield
Molecular Biology
Field
Biochemistry, Genetics and Molecular Biology
Domain
Life Sciences
Confidence Score
48%
Source
Scholar Data Model