Great expectations: using massively parallel sequencing to solve inherited disorders.

摘要

The mutation discovery process for monogenic disorders is undergoing an exciting revolution. Previously dependent on linkage mapping and carefully selected gene-candidate approaches, identifying disease-causing mutations was both time consuming and frustrating. The advent of the new and emerging massively parallel sequencing technologies is driving unbiased discovery of novel disease-causing mutations at an unprecedented rate. How long will it be before the process is fully automated and the job of molecular geneticist is changed forever? We comment on the mutation-discovery strategies compatible with this technology and demonstrate that while the modern gene jockey might need to trade in the horse for something a bit faster, the finish line for interpreting human genetic variation is still a long way ahead.