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igmmbioinformatics
trio-whole-exome
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0f7e4ab8
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0f7e4ab8
authored
3 years ago
by
ameyner2
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Run notes for batch 19573
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# 19573 EdGe
## Issues
*
447226 - sample 131873 (father) is very low depth (6X), comes up as non-paternity for 114891 as a result but this can be ignored
*
453955 - sample 132058 (proband) comes up as incorrect sex (annotated as female in PED file but no evidence of Y coverage)
## Notes
*
no contamination issues
*
low depth but still usable samples
*
438938 - sample 131858 (proband) 33X
*
433285 - sample 132221 (proband) 36X
*
XYY observable in X/Y coverage
*
452542 - sample 131311 (proband)
*
438235 - sample 131376 (father)
*
Possible amplification of a region on chr4 - increased coverage observed in QC
*
438371 samples 131201 (proband), 131202 (mother)
*
454213 samples 132222 (proband), 132223 (father)
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