19258_run_notes.md 801 B
Trio whole exome batch 19285 (EdGe)
- The urgent family is 438158.
- We know that sample 129421 (proband from family 436427) is going to fail – there was an issue during set up for this one.
- Family 438023 – Quad, for shared analysis between two sibs and trio analysis per sib (129760 and 129850).
Duos/singleton – for Congenica only
- 435163 (duo)
- 436090 (duo)
- 436525 (singleton)
QC
- Pedigree check ok
- Samples with slightly low coverage:
- 128940_435163 43X
- 128993_429270 47X
- 126656_429218 48X
- Contamination check ok
- Sample 129421 was not delivered - don't analyze family 436427, parents QC'd ok
- Sequencing QC check ok
Additional run with remove_lcr: false
Get an idea of how many additional candidate variants are returned if LCR filtering is turned off.