damiansm

Dear Jagadish, Can you give us more info on which version of Exomiser software and databases you are using. I can see in the latest there is definitely no match...

Sounds like a good idea. I guess we could produce a new whitelist file along these lines for all 2* variants chr pos ref alt clinvar_category override_variant_score var1 P 1...

The latest db (based on popular request) just has the MANE select and MANE clinical transcripts and overall this improves performance by getting rid of false positives. Looking at https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128655;r=2:177623244-178108339...

Hi Nirmal, The default behaviour for Exomiser is to do segregation analysis exactly as you describe so there must be something wrong with your .ped or .yml configurations file I...

Hi Nirmal, Let us look into it. The pedigree is definitely larger and more complicated than the ones we normally run Exomiser on but it should work. Have you tried...

I think bcftools should be fine. I have only used vcftools but think the merge function should do the same thing. As long as the multisample VCF produced has all...

This sounds like it would help a lot. Some of my analysis scripts take forever to run or even fail as they are trying to read the whole JSON output...

Yes - spotted that as well and we are going to investigate where that is coming from. Presumably the Orphanet XML. What do you think it means if it is...

There may be mouse, fish or PPI phenotype matches under the different inheritance modes though, each with a different score. Maybe "compatible" is the wrong word here though. We are...

See recent Carloline Wright papers. Look at gel diagnoses and P/LP and segregation to see how often happening. Want a more nuanced model rather than just 0% or 100% as...