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Marin-Garcia, Pablo;Perez-Gil, Daniel;Perez-Garcia, Cristian;Sanchis-Juan, Alba;Azahara Fuentes;Juanes, Jose M.;Labarga, Alberto;Fabregat, Antonio;Arnau, Vicente;Chaves-Martinez, Javier;Garcia-Planells, Javier;Garcia-Garcia, Ana Barbara

Description

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)

Mentions (0)

Metrics

Dataset Index

0.5

FAIR Score

85%

Citations

0

Mentions

0

Metrics Over Time

Publication Details

DOI

Publisher

Figshare

License

CC-BY

Assigned Domain

Subfield

Molecular Biology

Field

Biochemistry, Genetics and Molecular Biology

Domain

Life Sciences

Confidence Score

48%

Source

Scholar Data Model

Keywords

BioinformaticsFOS: Computer and information sciencesGeneticsFOS: Biological sciences

Normalization Factors

FT

53.85

CTw

1.00

MTw

1.00