[Myrddin]

There is a missing element here. Epigenetics. Identical twins have different fingerprints due to variations in hormones, nutrients and other environmental exposure. The genome is simply a starting point. Granted, there may be directly detectable defects in the base sequence. That doesn't cover the active, dynamic state of that genome in the living phenotype.

[neverdem]

There is a missing element here. Epigenetics. Identical twins have different fingerprints due to variations in hormones, nutrients and other environmental exposure. The genome is simply a starting point. Granted, there may be directly detectable defects in the base sequence. That doesn't cover the active, dynamic state of that genome in the living phenotype.

True, but I didn't take as the main points of the story, i.e. genome wide association studies were getting nowhere quickly, the need for whole genome sequencing and its decreasing price. They didn't have to deal with copy number variation either. IMHO, Mendelian genetics and whole genome sequencing worked in these diagnoses.