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problem with reference genome (hg19_nochr) #3

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erdanieee opened this issue Feb 8, 2019 · 0 comments
Open

problem with reference genome (hg19_nochr) #3

erdanieee opened this issue Feb 8, 2019 · 0 comments

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@erdanieee
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erdanieee commented Feb 8, 2019

Hi,
I'm trying to use Tredparse against some samples aligned on hg19_nochr. The calling seems to works fine (ends without errors). However, reports are outputs on hg38 coordinates and samples are always treated as females (the gender can't be inferred).

Here is my code:
tred.py samples.csv --ref hg19_nochr --workdir test
tredreport.py test/*.json --tsv test.tsv --ref hg19

And here are some output.

AX1401.tred.vcf.gz:

X 146993569 FXTAS CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG . . END=146993628;MOTIF=CGG;NS=1;REF=20;CR=55;IH=XLD;RL=60;VT=STR;RPA=30 GT:GB:FR:PR:RR:DP:FDP:PDP:RDP:PEDP:CI:PP:LABEL 1/1:30/30:30|8:4|1;5|2;7|1;8|1;10|2;12|1;13|3;14|2;18|1;20|2;22|1;24|1;25|1;26|1;30|1:50|1:24.8762135922:8:21:1:19:30-30|30-65:0.1425:ok

test.tsv.cases.txt:

[FXTAS] - Fragile X-associated tremor/ataxia syndrome
rep=CGG inherit=XLD cutoff=55 n_risk=8 n_carrier=0 loc=chrX:147912051-147912110
SampleKey inferredGender FXTAS.calls FXTAS.FR FXTAS.PR FXTAS.RR FXTAS.PP
AX1401 Unknown 30|57 30|7 ...|3;26|1;29|1;30|5;32|2;33|1 50|3 0.821746

tred.py --version

tred.pyc 0.7.8

Note: in the VCF file, the coordinates are correctly mapped to FXTAS on hg19, but in the report file corresponds to hg38.

tanghaibao pushed a commit that referenced this issue Sep 1, 2019
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