High throughput sequencing nd Rre Diseses "Plteforme Muttions" inititive. Understnding the moleculr bsis of humn diseses of genetic origin is fr from being chieved. It remins, in prticulr, to identify the genes tht re the most rrely involved. Identifiction of these genes is of prmount importnce to elucidte the pthogenic mechnisms of the diseses nd for the development of dignostic tools nd of innovtive therpeutics.
