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The present invention provides a means to determine the copy number of genomic segments distributed throughout a genome at considerably reduced time and expense.
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Background: The present invention provides a means to determine the copy number of genomic segments distributed throughout a genome at considerably reduced time and expense vs. whole-genome sequencing. We have developed a solution-based sequence capture method enabling the capture of an equal amount of sequence space every 10 kilo bases to achieve even coverage of the genome. This reduces the sequence space by approximately 99 percent and ensures the sequencing of genomic information at evenly spaced locations across the genome, providing resolution close to the spacing of the probes. The technology measures replication timing and copy number variation (CNV) in human pediatric acute lymphocytic leukemia samples, but it will be broadly applicable to any CNV application.