Methods and apparatuses for achieving precision genetic...

Details Methods and apparatuses for achieving precision genetic... Methods and apparatuses for achieving precision genetic...

2011-03-22

2011-03-22

Zhou, Shubo (Joe) (Department: 1631)

Chemistry: molecular biology and microbiology

Apparatus

Including measuring or testing

C435S005000, C435S006120, C702S019000, C702S020000

Reexamination Certificate

active

07910353

ABSTRACT:
Methods and apparatuses for selecting and arranging clinically relevant chromosomal loci allow an exemplary diagnostic array to simultaneously test for numerous genetic alterations that occur in many different parts of the human genome. Clinically irrelevant or ineffective loci are eliminated. One implementation increases reliability and accuracy by dividing the base-pair sequence of each chromosomal locus into segments and then assigning nucleic acid clones for comparative genomic hybridization to each different segment. The segments may overlap for increased resolution and control. Clones representing segments that are adjacent on a native chromosome are placed in non-adjacent target areas of the array to avoid interfering hybridization reactions. Arrangement motifs within an array may be redundantly repeated for high availability and increased reliability and accuracy of results. Techniques, hardware, software, logic engines, loci collections, and diagnostic arrays are described.

REFERENCES:
Bejjani et al., “Use of Targeted Array-Based CGH for the Clinical Diagnosis of Chromosomal Imbalance: Is Less More?”, American Journal of Medical Genetics, 2005, pp. 259-267, volume-issue 134A, Wiley-Liss, Inc., U.S.
Qian et al., “Identification and correction of spurious spatial correlations in microarray data,”BioTechniques35(1):42-48, 2003.
Misra et al., “A complex rearrangement of chromosome 7 in human astrocytoma,”Cancer Genetics and Cytogenetics151:162-170, 2004.

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