Extraordinary mutations require extraordinary evidence

Over at Genomes Unzipped Dr. Daniel MacArthur has a review up of a paper in Science where he is first author (note for grad students and aspiring post-docs, Dr. MacArthur is starting a new lab, where he posted an ungated version of the paper). He hits all the salient points, so I will cover two issues, a general and a specific. As Dr. MacArthur notes we're entering the era of whole-genome sequencing for humans. There is going to be a lot of gold in the coming avalanche of data, but this gold will be dwarfed by the amount of 'fool's gold'. On the face of it this makes total sense. When you go out and sequence billions of base pairs there will be technical errors, and those errors are likely to be confused with biological errors (i.e., genuine malfunctions in the genome, as opposed to malfunctions in the genome technology!). ...