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multi-proband in multi-VCFs #431

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luceamso opened this issue Apr 1, 2022 · 1 comment
Open

multi-proband in multi-VCFs #431

luceamso opened this issue Apr 1, 2022 · 1 comment

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@luceamso
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luceamso commented Apr 1, 2022

Hi,

My family consists of unaffected parents and 3 affected siblings. It works fine when I specify the proband ID and see each proband one by one, but when I try it to multi, it doesn't work. I've tried several attempts to see the results of all three, but I got the following error message:

java.lang.IllegalStateException: Failed to execute CommandLineRunner
	at org.springframework.boot.SpringApplication.callRunner(SpringApplication.java:794)
	at org.springframework.boot.SpringApplication.callRunners(SpringApplication.java:775)
	at org.springframework.boot.SpringApplication.run(SpringApplication.java:345)
	at org.springframework.boot.SpringApplication.run(SpringApplication.java:1343)
	at org.springframework.boot.SpringApplication.run(SpringApplication.java:1332)
	at org.monarchinitiative.exomiser.cli.Main.main(Main.java:52)
Caused by: java.lang.IllegalArgumentException: Unable to parse job from file examples/cs-fam1-genome-analysis-revel-mvp-remm.yml please check the format.
	at org.monarchinitiative.exomiser.core.analysis.JobReader.parseJob(JobReader.java:87)
	at org.monarchinitiative.exomiser.core.analysis.JobReader.readJob(JobReader.java:74)
	at org.monarchinitiative.exomiser.cli.CommandLineJobReader.readJobs(CommandLineJobReader.java:68)
	at org.monarchinitiative.exomiser.cli.ExomiserCommandLineRunner.run(ExomiserCommandLineRunner.java:55)
	at org.springframework.boot.SpringApplication.callRunner(SpringApplication.java:791)
	... 5 common frames omitted
Caused by: org.monarchinitiative.exomiser.core.proto.ProtoParser$ProtoParserException: Unable to parse message type org.monarchinitiative.exomiser.api.v1.JobProto$Job from file examples/cs-fam1-genome-analysis-revel-mvp-remm.yml
	at org.monarchinitiative.exomiser.core.proto.ProtoParser.parseFromJsonOrYaml(ProtoParser.java:60)
	at org.monarchinitiative.exomiser.core.analysis.JobReader.parseJob(JobReader.java:81)
	... 9 common frames omitted
Caused by: com.google.protobuf.InvalidProtocolBufferException: null
	at com.google.protobuf.util.JsonFormat$ParserImpl.merge(JsonFormat.java:1343)
	at com.google.protobuf.util.JsonFormat$Parser.merge(JsonFormat.java:476)
	at org.monarchinitiative.exomiser.core.proto.ProtoParser.parseYaml(ProtoParser.java:86)
	at org.monarchinitiative.exomiser.core.proto.ProtoParser.parseFromJsonOrYaml(ProtoParser.java:56)
	... 10 common frames omitted

or

java.lang.IllegalStateException: Failed to execute CommandLineRunner
	at org.springframework.boot.SpringApplication.callRunner(SpringApplication.java:794)
	at org.springframework.boot.SpringApplication.callRunners(SpringApplication.java:775)
	at org.springframework.boot.SpringApplication.run(SpringApplication.java:345)
	at org.springframework.boot.SpringApplication.run(SpringApplication.java:1343)
	at org.springframework.boot.SpringApplication.run(SpringApplication.java:1332)
	at org.monarchinitiative.exomiser.cli.Main.main(Main.java:52)
Caused by: java.lang.IllegalArgumentException: Proband '' not present in pedigree
	at org.monarchinitiative.exomiser.core.analysis.sample.Sample.checkSex(Sample.java:84)
	at org.monarchinitiative.exomiser.core.analysis.sample.Sample.<init>(Sample.java:73)
	at org.monarchinitiative.exomiser.core.analysis.sample.Sample$Builder.build(Sample.java:226)
	at org.monarchinitiative.exomiser.core.analysis.sample.SampleProtoConverter.toDomain(SampleProtoConverter.java:75)
	at org.monarchinitiative.exomiser.core.analysis.sample.Sample.from(Sample.java:65)
	at org.monarchinitiative.exomiser.core.analysis.JobParser.getSample(JobParser.java:114)
	at org.monarchinitiative.exomiser.core.analysis.JobParser.parseSample(JobParser.java:85)
	at org.monarchinitiative.exomiser.core.analysis.AnalysisParser.parseSample(AnalysisParser.java:99)
	at org.monarchinitiative.exomiser.core.Exomiser.run(Exomiser.java:67)
	at org.monarchinitiative.exomiser.cli.ExomiserCommandLineRunner.runJob(ExomiserCommandLineRunner.java:79)
	at org.monarchinitiative.exomiser.cli.ExomiserCommandLineRunner.runJobs(ExomiserCommandLineRunner.java:62)
	at org.monarchinitiative.exomiser.cli.ExomiserCommandLineRunner.run(ExomiserCommandLineRunner.java:57)
	at org.springframework.boot.SpringApplication.callRunner(SpringApplication.java:791)
	... 5 common frames omitted

I'm working with this pedigree:

#family_ID  sample_ID   paternal_ID maternal_ID sex affect
fam1	F9	0	0	2	1
fam1	F7	0	0	1	1
fam1	F14	F7	F9	2	2
fam1	F8	F7	F9	2	2
fam1	F15	F7	F9	1	2

Is there any way I can see the results of all three?
I would highly appreciate if you could have a look. Thank you so much!
Seoon

@luceamso
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luceamso commented Apr 18, 2022

@julesjacobsen
Hi,

I have additional questions.
My VCF file (cs_affected_fam.vcf.gz) was annotated with ANNOVAR databases including several customized ones, for instance, “gnomAD_r2.1.1_merged_all” and “bravo_freeze8” etc. So I would like to see the result of variants that follow the frequency of these databases. Is there any way to apply the filter frequency using these customized databases?
Thanks again for your time.

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