tonydisera / gene.iobio

An iobio app for examining gene variants
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Joint calling on gene returns variant outside of specified region #608

Open tonydisera opened 7 years ago

tonydisera commented 7 years ago

Joint call variants returns a variant that is outside of MTHFR gene range (platinum whole genome) SNP 11844737 (see screen print)

AlistairNWard commented 7 years ago

Closed #446 as it is similar issue:

Zoom in on the far right couple of exons and call variants. Nothing is called. Zoom out, recall and we call a variant in the third exon.

Calling is only occurring on the zoomed in section - but should be occurring on the whole gene.

http://nv-dev-new.iobio.io/gene.iobio/?rel0=proband&rel1=mother&rel2=father&rel=mother&name0=NA12878&vcf0=https://s3.amazonaws.com/iobio/samples/vcf/platinum-exome.vcf.gz&bam0=https://s3.amazonaws.com/iobio/samples/bam/NA12878.exome.bam&sample0=NA12878&name1=NA12892&vcf1=https://s3.amazonaws.com/iobio/samples/vcf/platinum-exome.vcf.gz&bam1=https://s3.amazonaws.com/iobio/samples/bam/NA12892.exome.bam&sample1=NA12892&name2=NA12891&vcf2=https://s3.amazonaws.com/iobio/samples/vcf/platinum-exome.vcf.gz&bam2=https://s3.amazonaws.com/iobio/samples/bam/NA12891.exome.bam&sample2=NA12891&gene=MYLK2&genes=MYLK2,RAI1,AIRE&affectedSibs=&unaffectedSibs=&species=Human&tbi0=&tbi1=&tbi2=&bai0=&bai1=&bai2=