Comparative genomic hybridization assays using immobilized oligonucleotide targets

摘要

Comparing the copy number of at least one nucleic acid sequence in at least two genomic sources comprises preparing genomic templates from genomic sources, each template prepared by amplifying each of the genomic sources in an amplification reaction with a highly processive polymerase producing amplification products having an average molecular size of 10 kb with substantially no amplification bias. Comparing the copy number of at least one nucleic acid sequence in at least two genomic sources comprises: (a) preparing at least a first genomic template from a first genomic source and a second genomic template from a second genomic source, where each of the first and second templates are prepared by amplifying each of the first and second genomic sources in an amplification reaction with a highly processive polymerase that produces amplification products having an average molecular size of at least about 10 kb with substantially no amplification bias; (b) preparing at least a first collection of nucleic acid probe molecules from the first template and a second collection of nucleic acid probe molecules from the second template; (c) contacting the first and second collections of nucleic acid probe molecules with one or more sets of oligonucleotide target elements bound to a surface of a solid support, each target element comprising a target nucleic acid; and (d) evaluating the binding of the first and second collection of nucleic acid probe molecules to the same target nucleic acid to compare the copy number of at least one nucleic acid sequence in the two genomic sources. An independent claim is also included for a method comprising receiving data representing a result of the reading obtaining by the method above.