This relates to the CCDHB exomes hyperparathyroid project undertaken by the human genomics group at ESR. Analysing Illumina, germline, human, whole exome sequence (WES) data.
Note. find an older analysis of some of this data at https://github.com/ESR-NZ/hyperparathyroid_analysis_20220328
- The raw data for this project is stored/backed up at
/NGS/clinicalgenomics/archive/2022/run/raw/hyperparathyroid_epilepsy_exome/on ESR's production network
- This analysis was for the most part carried out at
/NGS/humangenomics/active/2022/run/hyperparathyroid_analysis_20221102/on ESR's production network - A minimal version of the analyses were stored/backed up at
/NGS/clinicalgenomics/archive/2022/results/hyperparathyroid_analysis_20221102/on ESR's production network
- 01 - Assumptions
- 02 - Setup
- 03 - Pipeline runs
- 04 - Manual annotation
- 05 - Extract variants
- 06 - Report
- 07 - Scout
- 08 - Cleanup
- The github repository for this project is public
- For other general queries about this project beyond the bioinformatics, contact the current (2022) representatives of the ESR genomics group, Donia Macartney-Coxson (Donia.Macartney-Coxson@esr.cri.nz) and/or Joep de Ligt (joep.deligt@esr.cri.nz)
Find the github repository for this project at: https://github.com/leahkemp/hyperparathyroid_analysis_20221102
No results webpage