Have data from 23andMe or Ancestry? Make a report automatically with Promethease !


From SNPedia

At long last: the publication of the article discussing the sequencing of Dr. James Watson's genome has been published, in the 17 April 2008 issue of Nature [PMID 18421352].

On May 31, 2007 3:00 pm EST there was a videocast announcement of the completion of James Watson's genome by 454.com. [1]

Despite much early publicity such as:

James Watson, one of the 1962 Nobel prize winners for the discovery of the structure of DNA, has publicly released the sequence of most of his own genome, becoming the first person to do so intentionally.

Initial reports have stated that 3% of the Watson DNA sequence -- 1.3 million reads -- do not assemble onto the human genome reference sequence, suggesting that, "the human reference genome is about 97% complete". Interestingly, 20% of the reads that don't match are found in the Celera assembly, but the reverse analysis had not been done.

In total, 454 has identified 1.9 million substitutions in Watson's DNA from the reference sequence. 68% of those substitutions -- 1.31 million variants -- are found in the SNP database, dbSNP.

Of those nearly 2 million SNPs, "50 are found in database listing phenotypes of human polymorphisms." When informed, Watson reportedly joked, " 'What, only 50 things wrong with me?' He was kind of disappointed," Egholm quipped. In addition to SNPs, Egholm said the sequence revealed a "mind-boggling 68,000 indels [insertions/deletion] from 3 bases to 7000 bases."

- this report primarily from BioIT World

For almost one year after the sequence was supposedly finished in "just 4 months", the sequence was not made public, however this appears to be the Project Jim trace data. The sequence that is associated with the article published in Nature in April 2008 appears to have benefited from the lag time in that the sequence quality appears higher than the original sequence data.Nature article

During the May 2007 press conference there were slides showing a fasta formatted file. It was explained that this is what was actually given to James Watson.

One of Watson's 2 sons suffers from a mental illness that causes symptoms of both autism and schizophrenia. [2]

Early in the project, Watson asked 454 to delete his results for the apoE gene associated with Alzheimer's disease. Now he may have more disease variants inked out to protect his and his sons' privacy. - MIT Technology Review

NY Times coverage

When reviewing the articles, note which ones claim he received a DVD. He actually received a hard drive, with the statement that his diploid genome is 6G, and therefore too large for a DVD.