Enhanced high density oligonucleotide array-based sequence analysis using modified nucleoside triphosphates [PDF]
Pairs of high density oligonucleotide arrays (DNA chips) consisting of >96 000 oligonucleotides were designed to screen the entire 5.53 kb coding region of the hereditary breast and ovarian cancer BRCA1 gene for all possible sequence changes in the homozygous and heterozygous states.
J. Hacia
semanticscholar +5 more sources
Rapid p53 sequence analysis in primary lung cancer using an oligonucleotide probe array [PDF]
The p53 gene was sequenced in 100 primary human lung cancers by using direct dideoxynucleotide cycle sequencing and compared with sequence analysis by using the p53 GeneChip assay. Differences in sequence analysis between the two techniques were further evaluated to determine the accuracy and limitations of each method.
Steven A. Ahrendt+8 more
semanticscholar +5 more sources
Optimizing copy number variation analysis using genome-wide short sequence oligonucleotide arrays [PDF]
The detection of copy number variants (CNV) by array-based platforms provides valuable insight into understanding human diversity. However, suboptimal study design and data processing negatively affect CNV assessment. We quantitatively evaluate their impact when short-sequence oligonucleotide arrays are applied (Affymetrix Genome-Wide Human SNP Array 6.
Derek A. Oldridge+4 more
semanticscholar +8 more sources
Background High-density oligonucleotide arrays are widely used for analysis of genome-wide expression and genetic variation. Affymetrix GeneChips – common high-density oligonucleotide arrays – contain perfect match (PM) and mismatch (MM) probes generated
Kashiwagi Akiko+4 more
doaj +2 more sources
Background Molecular characterization of collagen-VI related myopathies currently relies on standard sequencing, which yields a detection rate approximating 75-79% in Ullrich congenital muscular dystrophy (UCMD) and 60-65% in Bethlem myopathy (BM ...
Merlini Luciano+12 more
doaj +2 more sources
Effective primer design for genotype and subtype detection of highly divergent viruses in large scale genome datasets. [PDF]
Identification of microorganisms in a biological sample is a crucial step in diagnostics, pathogen screening, biomedical research, evolutionary studies, agriculture, and biological threat assessment.
Demiralay B, Can T.
europepmc +2 more sources
Sequencing analysis of HPV-other type on an HPV DNA chip [PDF]
ObjectivesTo identify the specific human papillomavirus (HPV) genotypes from HPV-other type on an HPV DNA chip test by sequencing.MethodsAmong 13,600 women undergoing a routine gynecology examination including Pap smear and/or HPV test by DNA chip test ...
Min-Jeong Kim, Jin Ju Kim, Sunmie Kim
doaj +1 more source
Identification of genomic imbalances in oral clefts
Objective: This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs). Methods: The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non ...
Elaine Lustosa-Mendes+9 more
doaj +1 more source
Systematic validation and atomic force microscopy of non-covalent short oligonucleotide barcode microarrays. [PDF]
BACKGROUND: Molecular barcode arrays provide a powerful means to analyze cellular phenotypes in parallel through detection of short (20-60 base) unique sequence tags, or "barcodes", associated with each strain or clone in a collection.
Michael A Cook+6 more
doaj +1 more source
GSMA: Gene Set Matrix Analysis, An Automated Method for Rapid Hypothesis Testing of Gene Expression Data [PDF]
Background Microarray technology has become highly valuable for identifying complex global changes in gene expression patterns. The assignment of functional information to these complex patterns remains a challenging task in effectively interpreting data and correlating results from across experiments, projects and laboratories. Methods which allow the
James P. Hamilton+13 more
openaire +35 more sources