Abstract: Methods and compositions for performing sample heterogeneity corrected comparative genomic hybridization (CGH) are provided. In the subject methods, an initial CGH result is processed to account for potential sample heterogeneity to obtain a sample-heterogeneity corrected CGH result. Also provided are methods for evaluating candidate surface-bound nucleic acids, e.g., candidate aCGH probe nucleic acids, to identify probes useful in assaying heterogeneous samples.

Abstract: Comparative genomic hybridization assays and compositions for use in practicing the same are provided. In the subject methods, at least first and second genomic templates are prepared from first and second genomic sources using an amplification reaction that employs a highly processive polymerase, where the amplification reaction produces amplification products having an average molecular size of at least about 10 kb with substantially no amplification bias. The resultant templates are then employed to produce at least first and second probe nucleic acid populations. The resultant probe nucleic acid populations are then contacted with a plurality of oligonucleotide target elements immobilized on a solid support surface and the binding of at least first and second populations is then evaluated. Also provided are kits for use in practicing the subject methods.

Abstract: Methods and compositions for producing a labeled population of nucleic acids for use in an array-based comparative genome hybridization (CGH) assay are provided. In general, the methods involve cleaving a genomic source to produce a sample containing nucleic acid fragments, and end-labeling the nucleic acid fragments to provide a population of nucleic acids having a terminal label. Kits and systems for use in practicing the subject methods are also provided.

Abstract: Methods and compositions for assessing CpG island methylation are provided. Specifically, the invention provides an unstructured nucleic acid (UNA) oligonucleotide that base pairs with, i.e., hybridizes to, CpG islands. The subject oligonucleotide may be present in an array, and find use in methods for evaluating methylation of CpG islands in cells. Kits and computer programming for use in practicing the subject methods are also provided.

Abstract: Methods for evaluating surface-bound polynucleotides are provided. Specifically, the methods involve contacting an array of surface-bound polynucleotides with a population of labeled nucleic acids made from a non-naturally occurring composition of chromosomes, and evaluating binding of the labeled nucleic acids to a surface-bound polynucleotide. The methods may be used, for example, to screen for surface bound polynucleotides that have desirable binding characteristics, e.g., suitability for use in array-based comparative genomic hybridization assays. Kits and computer programming for use in practicing the subject methods are also provided.

Abstract: Methods and compositions for assessing chromosome copy number are provided. Specifically, the invention provides an array containing a plurality of features including at least one feature that contains oligonucleotides that are complementary to a structural region of a chromosome. The subject methods and compositions may be used to detect chromosome copy number in a cell, and, as such, may be employed in a variety of diagnostic and research applications. Kits and computer programming for use in practicing the subject methods are also provided.

Abstract: Comparative genomic hybridization assays and compositions for use in practicing the same are provided. In the subject methods, at least first and second genomic templates are prepared from first and second genomic sources using an amplification reaction that employs a highly processive polymerase, where the amplification reaction produces amplification products having an average molecular size of at least about 10 kb with substantially no amplification bias. The resultant templates are then employed to produce at least first and second probe nucleic acid populations. The resultant probe nucleic acid populations are then contacted with a plurality of oligonucleotide target elements immobilized on a solid support surface and the binding of at least first and second populations is then evaluated. Also provided are kits for use in practicing the subject methods.