leahkemp / hyperparathyroid_analysis_20221102

Analysis documentation for research into the variants associated with hyperparathyroidism. Illumina, germline, human, whole exome sequence (WES) data from the CCDHB.

CCDHB exomes hyperparathyroid (analysis 5 - 2022/11/02)

General info

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

Raw data location

• 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

Analysis location

• 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

Analysis workflow for reproducing this analysis

• 01 - Assumptions
• 02 - Setup
• 03 - Pipeline runs
• 04 - Manual annotation
• 05 - Extract variants
• 06 - Report
• 07 - Scout
• 08 - Cleanup

Access

• 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 ([e-mail]) and/or Joep de Ligt ([e-mail])

Github repository

Find the github repository for this project at: https://github.com/leahkemp/hyperparathyroid_analysis_20221102

Results webpage

No results webpage