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Pileup chromosome 8 pairoscope #38

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fmadrid2 opened this issue Aug 22, 2023 · 1 comment
Open

Pileup chromosome 8 pairoscope #38

fmadrid2 opened this issue Aug 22, 2023 · 1 comment

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@fmadrid2
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fmadrid2 commented Aug 22, 2023

found pielup in this window chr8:128,452,900-128,453,020 in sample MMRF_1825_2_BM_CD138pos_T1_KHWGS

@PedalheadPHX
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Adding other problematic windows I encountered reviewing translocation breakpoint calls exclusive to pairoscope

MAFB region:
chr20:39,672,486-39,672,747 - MMRF_2936_1_PB_CD138pos_T1_KHWGS

MAF region:
FALSE POSITIVE CALL: chr16:78,577,726-78,578,701 - MMRF_1371_2_BM_CD138pos_T1_KHWGS
FALSE POSITIVE CALL: chr16:79,389,970-79,390,028 - MMRF_1513_3_BM_CD138pos_T1_KHWGS
FALSE POSITIVE CALL: chr16:78,506,677-78,508,352, primarily pileup at chr16:78,506,685-78,506,728 - MMRF_2517_2_BM_CD138pos_T1_WGWGS

This one will be hard to handle as the 4 reads are distributed on chr16 but a pileup on chr2, hard to handle beyond increasing informative read count or adding immunoglobulin pileup filters/exclusions

FALSE POSITIVE CALL: Pileup on IgK region from 4 indepenent alignemnts on chr16 - MMRF_2181_1_BM_CD138pos_T1_KHWGL

Major question:
I swear I did a check to look for translocation calls in serial samples that were not seen in baseline and I didn't encounter any but some of these high coverage progression genomes should then be new calls

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