New draft item
收藏DataCite Commons2024-12-14 更新2024-07-25 收录
下载链接:
https://figshare.com/articles/New_draft_item/3369787/1
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资源简介:
NGS facilities dedicated for clinical genomics need high QC
standards, and they need continuously keeping track of their experiments and
their metrics. As part of the Medical Genomics Visualization toolset (MGviz) we
have developed an interactive software suit with R-Shiny and Python (Bokeh,
crossfilter, flask and ReportLab) for automatic reports of QC for the whole NGS
experiments in clinical diagnostics labs. The tool allows comparison of the
current experiment with historic data to see the performance of the sequencher,
checking different metrics for coverage and variations, warning for large copy
number regions In addition it remembers decisions over annotations, helps in
variant prioritization, segregation and finding compound heterozygotes and make
automatic historical reports of pathogenic variants informed by the lab.
提供机构:
Figshare
创建时间:
2016-05-11



