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igmmbioinformatics
trio-whole-exome
Commits
9d34f78d
Commit
9d34f78d
authored
2 years ago
by
ameyner2
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2 years ago
Stage: test
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docs/run-notes/19973_run_notes.md
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# 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
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