Patent ID: 7238484

Claim:
A method of surveying all chromosomes in a human genome for the presence of a copy number variation in one or more unique DNA sequence(s), said method comprising: (a) labeling DNA comprising unique sequences from each chromosome from a first sample with a first label; (b) contacting the labeled DNA with a plurality of target nucleic acids comprising unique sequences from each chromosome under conditions that permit hybridization, wherein either the labeled DNA or the target nucleic acids, or both, have had repetitive sequences, if initially present, blocked and/or removed; and (c) comparing the intensities of the signals from the labeled DNA hybridized to each target nucleic acid; wherein said method additionally comprises performing a second survey of all chromosomes in a human genome in a second hybridization, said second survey comprising: labeling DNA comprising unique sequences from each chromosome from a second sample with a label, wherein the label is the same as or different from the first label; and contacting the labeled DNA from the second sample with a plurality of target nucleic acids that comprises the same unique sequences as used for the first survey under conditions that permit hybridization, wherein either the labeled DNA or the target nucleic acids, or both, have had repetitive sequences, if initially present, blocked and/or removed; and said comparing comprises comparing the intensities of the signals from labeled DNA hybridized to each target nucleic acid to determine one or more copy number variations in sequences in the first sample relative to substantially identical sequences in the second sample.