diff --git a/docs/run-notes/19188_run_notes.md b/docs/run-notes/19188_run_notes.md new file mode 100644 index 0000000000000000000000000000000000000000..a2f8000e39e70cc3858e2811192f2c12b26e5eb4 --- /dev/null +++ b/docs/run-notes/19188_run_notes.md @@ -0,0 +1,27 @@ +# Trio whole exome - 19188 (EdGe) + +* Fam 435981 - urgent trio +* Fam 404190, Individual 128589 is a repeat maternal sample - other 2 samples are from 14110_Ansari_Morad +* Fam 433855, Individual 128681 is a repeat proband sample - other 2 samples are from 18610_Ansari_Morad +* Fam 428986 affected duo, for shared variant analysis +* Fam 435139 quad – similarly affected brothers. Shared & trio analysis. +* Fam 434642 duo for Congenica +* Fam 434889 duo for Congenica + +## QC notes + +**Note:** family 433924 had to be re-started and is not included in these notes yet. + +* All passed pedigree checks +* Coverage a little low for: + * 128450_434883 - 35X - unaffected father + * 128360_434801 - 37X - proband + * 84873_435139 - 37X - proband + * 128102_429275 - 43X - unaffected father + * 128540_434918 - 43X - unaffected mother +* Slight contamination for: + * 128540_434918 - 2.9% - unaffected mother (also with slightly low coverage 43X above) +* Relatedness looks fine +* All correct sex +* 120967_434490 (male proband) has slightly odd X/Y mapping percentages at 80/20. Most males are in a tight range of 88-90%, it's a clear outlier. +* 128102_429275 (unaffected father, also with slightly low coverage 43X above) has very odd chromosome mapping percentages and GC content distribution. \ No newline at end of file