Automated Author Profile

Perez-Garcia, Cristian

Current S-Index

0.1

Sum of Dataset Indices for all datasets

Average Dataset Index per Dataset

0.1

Average Dataset Index per dataset

Total Datasets

1

Total datasets for this author

Average FAIR Score

13.5%

Average FAIR Score per dataset

Total Citations

0

Total citations to the author's datasets

Total Mentions

0

Total mentions of the author's datasets

S-Index Interpretation

S-Index Over Time

Cumulative Citations Over Time

Cumulative Mentions Over Time

Datasets

New draft item

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.

Authors

  • 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
0 Citations0 Mentions13% FAIR0.1 Dataset Index
10.6084/m9.figshare.3369787.v1January 2016