Closed Phillip-a-richmond closed 7 years ago
My concern about using the GIAB gold standard is that we'll then have downstream ascertainment bias by the population of that individual.
This will be combined into the variant calling issue (https://github.com/hackseq/2016_project_6/issues/10), including calling SNPs from the data and inferring read balance.
From dbSNP and GIAB gold standard NA12878, identify the high confident SNPs that can be used for allele-ratio queries