I received a similar email and was able to download my genome file a few days ago. The file is 23andMe format output by Plink. It was text even though it had a .gz suffix. I had trouble uploading the file to Promethease, but was able to get it working by changing the header to one copied from an actual 23andMe file and removing the missing (--) SNPs. Unfortunately, despite being ~125MB (~5x the size of an example 23andMe file I have) my file is missing many of the 23andMe SNPs (7948 genotypes annotated in Promethease vs. 20k+ for the 23andMe example). I have an email in to BGI requesting additional information. For example, Promethease directly supports the dbSNPAnnotated.bz2 Complete Genomics file and I was hoping to get a copy of that file for my data.
Have you had any success analyzing your results? Would anyone be interested in starting a discussion group for analyzing our BGI results?
Thanks for the explanation and tips! I used your procedure and ended up with the same 131MB file. Interestingly I did not need to remove the “—” entries. I have been exchanging email with BGI and they indicated files could have significantly different number of entries (but I am surprised at >3x!). Is there any chance your sequencing had greater than 4x coverage? My VCF file is queued up and should be available in a few months which should help clarify what I am seeing.