Agilent Technologies, Inc.

Douglas N Roberts

Jing Gao

Peter G Webb

Margherita Corioni

B Shane Giles

The present disclosure is directed to a single-end sequencing method for improved detection of genomic rearrangements such as deletions, insertions, inversions, and translocations that are present in a polynucleotide. A first priming event allows for sequencing of a target sequence, and a second priming event on an adapter allows for identification of the sequences amplified and tagged by selective amplification. The combination of priming events in the same direction facilitates read alignment and the identification of any genomic rearrangements.

Sequencing method for genomic rearrangement detection

A method of selecting a set of normalization probes for use on a comparative genome hybridization array is provided. In certain embodiments, the method includes: a) selecting a first region of a genome to be evaluated by comparative genome hybridization to produce data; b) selecting a second region of the genome for normalization of the data, and c) selecting from a set of candidate probes a sub-set of normalization probes that detect the second region.

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Campbell, CA, United States of America

Douglas N Roberts