Skip to content
Snippets Groups Projects

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