my AR inheritance mode prioritizations are full of genes with two hits that are only a couple of nucleotides away, false positives mistaken as two separate hits. Checking IGV often these land on the same read. This problem reoccurs with vcf input files from different facilities and different variant calling and filtering pipelines.
Suspecting that this is a common problem in vcf files that Exomiser does not handle well.
Is there any way to get Exomiser to ignore variants less than 100 nucleotides apart as separate variants in the AR inheritance mode prioritization? To avoid these false calls.
Hello,
my AR inheritance mode prioritizations are full of genes with two hits that are only a couple of nucleotides away, false positives mistaken as two separate hits. Checking IGV often these land on the same read. This problem reoccurs with vcf input files from different facilities and different variant calling and filtering pipelines. Suspecting that this is a common problem in vcf files that Exomiser does not handle well.
Is there any way to get Exomiser to ignore variants less than 100 nucleotides apart as separate variants in the AR inheritance mode prioritization? To avoid these false calls.
Br, Victoria