19973_run_notes.md 1.09 KiB
Run 19973
Pre-run info
Other family members on previous runs
- 453234, parents (134865 and 134864) are on this run, proband was on run 19690 (132524)
- 414996, proband (135612) and father (117093) are on this run, mother was on run 18203 (121256)
- 457300, proband (134113) and mother (134114) are on this run, father was on run 19875 (134116)
Singletons
- 457456 (FFPE tissue, might fail)
- 480173
Duos (for singleton analysis)
- 457600 (proband: 134484)
- 458099 (proband: 129313)
Priority
- 414996, 480290, 457300, 481401, 481293
QC summary
- 457546
- 135245 - proband - 0.3M reads, contamination 14%, C>T/G>A deamination artefacts (probably 30% of variants) - fail, do not proceed with prioritization
- 457300
- 134113 - proband - 27X - low but usable
- 134116 - father - 33X - low but usable, failed per-tile sequence quality in FastQC (unusual)
- 481089
- 105222 - mother - 42X - borderline low, fine to analyze
- 473144
- 135054 - father - 45X - borderline low, fine to analyze
- 414996
- 117093 - father - contamination 10% - proceed with prioritization with caution