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Rescue mutations that are oncogenic at 2% frequency #922

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anoronh4 opened this issue Sep 10, 2021 · 1 comment
Open

Rescue mutations that are oncogenic at 2% frequency #922

anoronh4 opened this issue Sep 10, 2021 · 1 comment
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somatic analysis related to post-alignment analysis of the tumor sample
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@anoronh4
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Currently we detect mutations at frequencies as low as 5% and rescue hotspot mutations as low as 2%. We should also be rescuing mutations that are Likely Oncogenic, Predicted Oncogenic and Oncogenic. Here is a not so random sample of calls where Hotspot==TRUE with the corresponding oncokb oncogenic label and the final Filter that was applied.

for i in /juno/work/tempo/wes_repo/Results/v1.4.x/somatic/s_C_M*/combined_mutations/*somatic.unfiltered.maf ; do cut -f 109,209,233 $i | grep "TRUE$" ; done | sort | uniq -c 
      1 high_n_alt_count	Likely Oncogenic	TRUE
      2 high_n_alt_count	Oncogenic	TRUE
      1 low_n_depth	""	TRUE
      1 low_vaf;high_n_alt_count;high_gnomad_pop_af;PoN	Predicted Oncogenic	TRUE
      2 low_vaf	Likely Neutral	TRUE
      1 low_vaf	Likely Oncogenic	TRUE
      1 low_vaf	Predicted Oncogenic	TRUE
      2 low_vaf	""	TRUE
      1 multiallelic2;low_vaf	Likely Oncogenic	TRUE
      1 multiallelic2;low_vaf;low_t_alt_count	""	TRUE
      2 multiallelic2;low_vaf	Predicted Oncogenic	TRUE
      5 multiallelic2;low_vaf	""	TRUE
      1 part_of_mnv	Oncogenic	TRUE
      2 PASS	Likely Neutral	TRUE
    104 PASS	Likely Oncogenic	TRUE
     80 PASS	Oncogenic	TRUE
     14 PASS	Predicted Oncogenic	TRUE
      8 PASS	""	TRUE
      1 PASS		TRUE

it may be worthy to note that of the Hotspot mutations, about 5% did not have one of the aforementioned oncogenic labels.

@anoronh4 anoronh4 changed the title Rescue mutations that are oncogenic at .02 Rescue mutations that are oncogenic at 2% frequency Sep 10, 2021
@anoronh4 anoronh4 added this to the 1.5 milestone Sep 22, 2021
@anoronh4 anoronh4 added the somatic analysis related to post-alignment analysis of the tumor sample label Sep 22, 2021
@anoronh4
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anoronh4 commented Dec 2, 2021

Update:
Because oncokb is updated continuously and not versioned, and Tempo's oncokb annotation is not triggered by updates to the oncokb database, we are considering to skip this annotation in Tempo altogether, or shift it further downstream. the most current version of oncokb can be annotated outside of Tempo either by a live service or by an analyst. however we will have to make sure all mutations >=2% are available for annotation downstream.

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