Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies
نویسندگان
چکیده
منابع مشابه
High-resolution analysis of DNA copy number using oligonucleotide microarrays.
Genomic copy number alterations are a feature of many human diseases including cancer. We have evaluated the effectiveness of an oligonucleotide array, originally designed to detect single-nucleotide polymorphisms, to assess DNA copy number. We first showed that fluorescent signal from the oligonucleotide array varies in proportion to both decreases and increases in copy number. Subsequently we...
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Chromosome copy number analysis using whole-genome expression and genotyping microarray technology is fundamentally improving our understanding of human disease. The GeneChip Human Mapping 100K Set in combination with the GeneChip Chromosome Copy Number Analysis Tool enables researchers to detect copy number alterations, loss of heterozygosity (LOH), and genotypes in a single experiment. High-r...
متن کاملRepresentational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation.
We have developed a methodology we call ROMA (representational oligonucleotide microarray analysis), for the detection of the genomic aberrations in cancer and normal humans. By arraying oligonucleotide probes designed from the human genome sequence, and hybridizing with "representations" from cancer and normal cells, we detect regions of the genome with altered "copy number." We achieve an ave...
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We have developed a robust algorithm for copy number analysis of the human genome using high-density oligonucleotide microarrays containing 116,204 single-nucleotide polymorphisms. The advantages of this algorithm include the improvement of signal-to-noise (S/N) ratios and the use of an optimized reference. The raw S/N ratios were improved by accounting for the length and GC content of the PCR ...
متن کاملGenome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays.
Recent reports indicate that copy number variations (CNVs) within the human genome contribute to nucleotide diversity to a larger extent than single nucleotide polymorphisms (SNPs). In addition, the contribution of CNVs to human disease susceptibility may be greater than previously expected, although a complete understanding of the phenotypic consequences of CNVs is incomplete. We have recently...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2007
ISSN: 1098-3600,1530-0366
DOI: 10.1097/gim.0b013e318148bb81