Here's his own telling of the story: http://mydaughtersdna.org/Members/hyrjr/the-reasoning-behind-the-dna-analysis http://mydaughtersdna.org/Members/hyrjr/the-r

Here's his own telling of the story: http://mydaughtersdna.org/Members/hyrjr/the-reasoning-behind-the-dna-analysis http://mydaughtersdna.org/Members/hyrjr/the-reasoning-behind... An example of the zigzag pattern he probably received from the sequencing lab (his would have been much larger): http://www.ensembl.org/Homo_sapiens/Transcript/Summary?db=core;g=ENSG00000135503;r=12:50631753-50677124;t=ENST00000257963 http://www.ensembl.org/Homo_sapiens/Transcript/Summary?db=co... The reference sequence for the gene (this is what he was looking at): http://www.ensembl.org/Homo_sapiens/Transcript/Exons?db=core;g=ENSG00000135503;r=12:50631753-50677124;t=ENST00000257963 http://www.ensembl.org/Homo_sapiens/Transcript/Exons?db=core... and his manual diff (at his site): http://mydaughtersdna.org/Members/hyrjr/acvr1b http://mydaughtersdna.org/Members/hyrjr/acvr1b The usual way to do a gene diff is by aligning two sequences with a program like ClustalW (free, and packaged with Debian now). That shows the differences and positions in a format other programs can read. But I don't know how much annotation the lab gave him, and annotating a pile of introns and exons does take a long time, even with the right tools -- the diffs aren't necessarily helpful until the rest of that information is in place.