DIAGNOSTIC SEQUENCING BY A COMBINATION OF SPECIFIC CLEAVAGE AND MASS SPECTROMETRY

摘要

The present invention is in the field of nucleic acid-based diagnostic assays.More particularly, it relates to methodsuseful for the "diagnostic sequencing" of regions of sample nucleic acids forwhich a prototypic or reference sequence is alreadyavailable (also referred to as "re-sequencing"), or which may be determinedusing the methods described herein. This diagnostictechnology is useful in areas that require such re-sequencing in a rapid andreliable way: (i) the identification of the various allelicsequences of a certain region/gene, (ii) the scoring of disease-associatedmutations, (iii) the detection of somatic variations, (iv)studies in the field of molecular evolution, (v) the determination of thenucleic acid sequences of prokaryotic and eukaryotic genomes;(vi) identifying one or more nucleic acids in one or more biological samples;(vii) and determining the expression profile of genesin a biological sample and other areas.