Michael Eberle

Hello, We never specifically called HLA as part of the Platinum Genomes other than the calling that was done using the usual pipelines. Have you downloaded the calls for NA12878...

There are some instructions on downloading the data if you go to https://github.com/Illumina/PlatinumGenomes and read the text farther down the page. If you prefer, you can directly browse the data...

I think that what you are talking about is the PAR region. For variants, we "validate" the call based on the genotypes agreeing with the inheritance. Thus in males, the...

Hi @erika8, Thanks for using this resource. I think that I know what has happened. One of our requirements is that a "confident" region must be called across the pedigree...