Thanks for this great resources. I don't know if you have any control over the NCBI ftp site, but the README.GIAB.v0.2.txt file appears to be garbled in some way. Best, Steve
We found it quite helpful to have the NIST high confidence call set as an outside standard in our recent exome analysis. http://www.personalis.com/assets/files/posters/ashg2013/Towards_a_medica...
it is a very good news that the PGP has started to collect blood for cell line development for all trios that are current participatory . Please add some more details about it in the coming blog post. we are really carrying out an amazing job here. al the support.regards
Developing methods to integrate multiple data-sets and bed file for is very helpful in gaining sets of genotypes for its references. It will be very easy for them to track places and determine its descriptions. Easy work is awaitingif this will be fully developed.