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DR10 - MUTO-INTL QC #1171

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edsu7 opened this issue Sep 12, 2024 · 3 comments
Open

DR10 - MUTO-INTL QC #1171

edsu7 opened this issue Sep 12, 2024 · 3 comments
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@edsu7
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edsu7 commented Sep 12, 2024

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@edsu7 edsu7 self-assigned this Sep 12, 2024
@edsu7
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edsu7 commented Sep 17, 2024

QC tsv

https://docs.google.com/spreadsheets/d/1mNglvKT4_-E94SRt_giqhjT7om66_NLF/edit?gid=610582384#gid=610582384
https://docs.google.com/spreadsheets/d/1yLWWV6Vh_c2SyPVaPTedHDpdagjXRJFG/edit?usp=sharing&ouid=104625230692579285705&rtpof=true&sd=true
https://docs.google.com/spreadsheets/d/1r9s44pky0kIDUBN83gY6Bk9JtwpiWIfW/edit?gid=1129374221#gid=1129374221

Release notes:

  • DO253559 was previously missing variant calls

Current

Donor Counts 155 78 1 1
Clinical X X
DNA Alignment X X
GATK Variant X X X
Sanger Variant X X

Old

Donor Counts 155 12 1
Clinical X
DNA Alignment X
GATK Variant X X
Sanger Variant X X
Donor Counts 143 1 1
Clinical X
DNA Alignment X
GATK Variant X X
Sanger Variant X X

Follow up

  • flagged b/c of normal coverage and previously released, double check Addressed
DO250084
DO250048
DO250233
DO250202
DO250325
DO250478
DO250402
DO250451
DO250414
DO250425
DO250408
  • flagged b/c of normal coverage and would be new donors, double check Addressed
DO252960
DO253009
DO253025
DO253064
DO253093
DO253008
DO253106
DO253077
DO253096
DO252977
DO253323
  • missing sanger calls
DO250034
DO250055
DO250304
DO250529
DO250501
DO252982
DO253171
DO253403
DO253425 # Sanger detected contamination
DO253784 # Sanger detected contamination
DO253863
DO253471
DO253841
DO250497
  • missing variant calls DO253080

Edits :

  • lower coverage threshold, update release notes, update TSV
  • add missing sanger calls donors
  • updated workshow to reflect added donors w/exceptions

@lindaxiang
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@edsu7 let's lower the threshold for normal coverage as:
normal coverage > 15X, tumour coverage > 30X

@lindaxiang
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Looks good to me.

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