发明名称 METHOD FOR DIAGNOSING A GENETIC ALTERATION ASSOCIATED WITH A CHROMOSOMAL LOCUS
摘要 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.
申请公布号 US2010248983(A1) 申请公布日期 2010.09.30
申请号 US20100797622 申请日期 2010.06.10
申请人 SIGNATURE GENOMICS LABORATORY 发明人 SHAFFER LISA G.;BEJJANI BASSEM A.
分类号 C40B30/04;C12Q1/68;G01N33/48;G01N33/50;G06F19/00 主分类号 C40B30/04
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