• A short introduction how cytogenetics and molecular cytogenetics were established is followed by technical aspects of fluorescence in situ hybridization (FISH). (frontiersin.org)
  • This review is about "molecular cytogenetics" including 1) the historical perspective of its development from cytogenetics, 2) technical aspects, 3) available probe sets, and 4) variants and applications of the basic fluorescence in situ hybridization (FISH) approach. (frontiersin.org)
  • The complex marker chromosome, der(14)t(14;16)(q11.2;p13.13), was initially identified by routine chromosomal analysis and subsequently characterized by array-comparative genomic hybridization (array CGH) and confirmed by fluorescence in situ hybridization (FISH). (biomedcentral.com)
  • A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. (wakehealth.edu)
  • To evaluate the technical and clinical feasibility of next-generation sequencing on cfDNA for detecting leukemic clonal abnormalities, a pilot study was performed on ten residual samples to compare results from cfDNA sequencing analysis (cfDSA) with diagnostic findings from karyotyping, fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (aCGH). (najms.com)
  • In Situ Hybridization" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uams.edu)
  • This graph shows the total number of publications written about "In Situ Hybridization" by people in UAMS Profiles by year, and whether "In Situ Hybridization" was a major or minor topic of these publications. (uams.edu)
  • Below are the most recent publications written about "In Situ Hybridization" by people in Profiles over the past ten years. (uams.edu)
  • Whole mount in situ hybridization methodology for Schistosoma mansoni. (rush.edu)
  • Genetic analysis included karyotyping, X inactivation studies, fluorescent in situ hybridization, microsatellite marker genotyping, and array comparative genomic hybridization. (biomedcentral.com)
  • Chromosomal imbalances are a major cause of developmental delay, learning disabilities and congenital abnormalities and - according to Emily Niemitz writing in Nature Genetics - the database facilitates collaboration between researchers and clinicians who have patients with similar clinical characteristics, which can "assist in the discovery of new syndromes and in the recognition of genes of clinical importance. (wikipedia.org)
  • Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia. (najms.com)
  • Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. (najms.com)
  • Typically a clinical geneticist arranges for a chromosome analysis (usually microarray based) of a patient's DNA. (wikipedia.org)
  • Each centre is represented by an experienced clinical geneticist and a senior molecular cytogeneticist. (wikipedia.org)
  • As a tool for clinical geneticists, cytogeneticists and molecular biologists, DECIPHER is used to determine whether gene copy number variations identified in patients are of clinical significance. (wikipedia.org)
  • DNA purified with from such large scale blood samples with Gentra products is well suited for applications such as QIAGEN s PCR-based genotyping, molecular testing products or comparative genomic hybridization (CGH). (webwire.com)
  • The Gentra products are very complimentary to QIAGEN s product and technology portfolio providing additional solutions to enable large-scale research in biomedical, genomic and molecular diagnostic laboratories. (webwire.com)
  • Standard chromosome analysis by G-banding has a limited resolution, but molecular cytogenetic techniques, such as multi-subtelomeric FISH, microdeletion FISH, multicolour FISH and comparative genomic hybridisation (CGH), have played an important role for the diagnosis of MR during the past decade. (bmj.com)
  • Microarrays remain an invaluable tool for omics-based research not only in drug discovery, but in the life sciences, in clinical research, and for diagnostic applications worldwide. (routledge.com)
  • High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. (idtdna.com)
  • Bacterial artificial chromosome-comparative genomic hybridization (BAC-CGH) has been used to look for genomic amplifications and deletions which may also contribute to expression changes. (ox.ac.uk)
  • RESULTS: We fail to find evidence of genomic deletions or amplifications affecting the Smad4 locus on chromosome 18 but show a correlation between promoter methylation and the loss of Smad4 expression in the same material. (ox.ac.uk)
  • Based on our findings, we provide recommendations for clinical follow-up and surveillance of individuals with terminal 6q deletions. (biomedcentral.com)
  • As these deletions are rare, there is only limited information about their effect on the clinical phenotype. (biomedcentral.com)
  • Genome-wide diagnostic testing inevitably means that far more genetic information about the patient is revealed than is necessary for answering the clinical question. (nature.com)
  • This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei. (wakehealth.edu)
  • 5.Vaginal microbiome variances in sample groups categorized by clinical criteria of bacterial vaginosis. (mmh.org.tw)
  • A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes. (uams.edu)
  • Comparative genomic hybridization (CGH) has been developed to elucidate genome-wide sequence copy number variation (CNV) between different genomes, such as the differential amplification or deletion of genetic regions between tumor DNA and normal DNA from neighboring unaffected tissue [ 7-10 ]. (idtdna.com)
  • The clinical heterogeneity of neuroblastoma mirrors the biological and genetic heterogeneity of these tumors. (biomedcentral.com)
  • Genetic studies have clarified that most microcephaly genes encode ubiquitous proteins involved in mitosis and in maintenance of genomic stability, but the effects of their inactivation are particularly strong in neural progenitors. (cancerindex.org)
  • Using DECIPHER, the clinician can then identify the specific genes affected by the deletion/duplication, determine whether any have known clinical significance (for example, whether tumour suppressor genes have been deleted), and view the region in the Ensembl genome browser to see whether there are any other consented patients in DECIPHER with overlapping deletion/duplications. (wikipedia.org)
  • Comparative genomic hybridisation (CGH) was used to screen 76 vestibular schwannomas from 76 patients (66 sporadic and 10 NF2 related) to identify other chromosome regions that may harbour genes involved in the tumorigenesis. (bmj.com)
  • Virulence genotype analysis revealed that strain CR1 lacked hemolytic phospholipase C and D, three genes for LPS biosynthesis and had reduced antibiotic resistance genes when compared with clinical strains. (frontiersin.org)
  • In the past ten years, improvements in massively parallel sequencing techniques have led to the development and widespread clinical use of multigene panels, which allow simultaneous testing of two to more than 150 genes. (nih.gov)
  • These include genes selected by a clinician for analysis by clinical sequencing. (nih.gov)
  • For some of the genomic regions that are deleted in some neuroblastomas, on 1p, 3p and 11q, candidate tumor suppressor genes have been identified. (biomedcentral.com)
  • Functional analysis of multiple genomic signatures demonstrates that classification algorithms choose phenotype-related genes. (clinbioinfosspa.es)
  • In both cases, DNA from two samples are differentially labeled with fluorescent dyes and co-hybridized to immobilized genomic capture probes. (biomedcentral.com)
  • In essence, relative ratios of copy number between two DNA samples are obtained by comparing the two fluorescent signal intensities for each probe under the assumption that intensities reflect the amount of corresponding genomic DNA in the respective sample. (biomedcentral.com)
  • However it is supported by an international research consortium, with patient data contributed by more than 240 clinical genetics centres from 33 countries. (wikipedia.org)
  • DECIPHER was established in 2004 by Nigel Carter of the Wellcome Trust Sanger Institute and Helen Firth, a clinical genetics consultant at Addenbrooke's Hospital in Cambridge. (wikipedia.org)
  • We confirm that the AR locus on the X chromosome is amplified in 30% of the advanced clinical samples and that this correlates with increased transcript levels as previously reported by other groups. (ox.ac.uk)
  • Significant rise in target patient population across the world, and rising preference for CGH in clinical diagnosis, is expected to drive the market further, providing players with lucrative opportunities. (fintechnews.org)
  • The development of accurate and sensitive genome wide screening methods would facilitate the clinical diagnosis of patients with very small or subtle rearrangements. (bmj.com)
  • Last, the course will be conducted through an experimental approach to develop the scientific methodology, skills that will increase the student abilities in clinical decisions and problem solving. (uniss.it)
  • Our technique enables identification of driver and prognostic CNAs in archival patient samples previously deemed unsuitable for genomic analysis due to DNA limitations. (biomedcentral.com)
  • CNAs reflect the underlying biology of a tumor [ 2 ] and, given suitable detection methods, could be used in research and potentially in clinical settings to predict patients' response to treatment and prognosis. (biomedcentral.com)
  • Fleischhacker M, Schmidt B. Circulating nucleic acids (CNAs) and cancer-a survey. (najms.com)
  • Nucleic Acids Res. (idtdna.com)
  • Schwarzenbach H, Hoon DS, Pantel K. Cell-free nucleic acids as biomarkers in cancer patients. (najms.com)
  • Survival analysis was performed using each gene in the clinical transcriptomic data, and gene set enrichment analysis was used to determine pathways related to model performance in predicting survival and recurrence. (bvsalud.org)
  • Genomic information for outlier strains of Pseudomonas aeruginosa is exiguous when compared with classical strains. (frontiersin.org)
  • It clustered with the outlier group, hence we scaled up the analyses to understand the differences in environmental and clinical outlier strains. (frontiersin.org)
  • Significant genomic differences within the S. suis population, even amongst strains belonging to the same serotype, implied that virulence potential is genetically related. (biomedcentral.com)
  • Genomic analyses of African Trypanozoon strains to assess evolutionary relationships and identify markers for strain identification. (cdc.gov)
  • We performed a multicenter study of C. sakazakii infections in humans (EUCRONI) to determine the occurrence of C. sakazakii in clinical microbiology laboratories across Europe. (cdc.gov)
  • Our data have provided evidence for a comparable prediction of clinical outcome in CMF-treated breast cancer patients using conventional clinical variables and gene expression based markers. (lu.se)
  • Gentra is a well established leader in nucleic acid purification consumables and automation for important niche markets such as biobanking and DNA archiving, where larger sample volumes and long term stability are important for customers, said Peer M. Schatz, QIAGEN s Chief Executive Officer. (webwire.com)
  • We identified eight new regions of genomic plasticity and a plasmid pCR1 with a VirB/D4 complex followed by trimeric auto-transporter that can induce virulence phenotype in the genome of strain CR1. (frontiersin.org)
  • sig-nificant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). (123dok.org)
  • remarkable differences can be seen regarding the clinical outcome. (biomedcentral.com)
  • According to comparative genomic hybridization (CGH) data published in the literature, the simple and complex karyotypes show a correlation between the prognosis and clinical outcome. (biomedcentral.com)
  • For this reason, we performed a fine-tuned interpretation of our DNA ploidy results and compared these to high-resolution comparative genomic hybridization (HR-CGH) outcome, by using the same samples. (biomedcentral.com)
  • Breast cancer is a heterogeneous disease with a large variabil- survival after adjuvant polychemotherapy was 10% (from ity in clinical outcome. (lu.se)
  • Adjuvant polychemotherapy (e.g. with 58% to 68%) for patients under the age of 50.1 Besides an cyclophosphamide, methotrexate and 5-fluorouracil (CMF)) or improvement in clinical outcome, these figures indicate that anthracycline-containing regimes, produce substantial reduc- a large proportion of the patients will never recur after the tion in recurrence and mortality. (lu.se)
  • DECIPHER is a web-based resource and database of genomic variation data from analysis of patient DNA. (wikipedia.org)
  • We sequenced and constructed the complete genome of an environmental strain CR1 of P. aeruginosa and performed the comparative genomic analysis. (frontiersin.org)
  • However, the analytic and clinical validities need to be established using a large sample series and user-friendly designed bioinformatic tools need to be developed for robust sequencing data analysis in a clinical setting. (najms.com)
  • Different variants of FISH can be used to retrieve information on genomes from (almost) base pair to whole genomic level, as besides only second and third generation sequencing approaches can do. (frontiersin.org)
  • Introduction Recently, genomic research in livestock is focused on genomic variation and its effect on phenotypic performance in economic traits. (ac.ir)
  • Ola Myklebost is Senior Scientist and part-time Project Leader at the Department of Tumor Biology , Institute for Cancer Research, and Professor at the Department of Clinical Science at the University of Bergen. (ous-research.no)
  • No published signature significantly improved on the resampled controls for prediction of clinical outcomes. (bvsalud.org)
  • Now in its second edition, Applying Genomic and Proteomic Microarray Technology in Drug Discovery highlights, describes, and evaluates current scientific research using microarray technology in genomic and proteomic applications. (routledge.com)
  • The company is involved in the commercialization of multiplexed assays for life science, clinical research, and in vitro diagnostics. (routledge.com)
  • Although the high success rate of CNA by MIP assays in FFPE-derived DNA makes it arguably the best currently used method, its application remains limited since in many research and clinical settings, obtaining 100 ng of input DNA is often unachievable, particularly for small biopsy samples and pre-cancerous lesions. (biomedcentral.com)
  • Although life-science research is still the dominant application, the clinical diagnostics and prognostics market is also becoming a reality. (kaloramainformation.com)
  • This discussion addresses clinical tests available through CLIA-certified laboratories in the United States. (nih.gov)
  • He thanked the regional and global specialized laboratories for their efforts to provide timely results of the genomic sequencing of wild polioviruses, and for their help in planning and monitoring polio eradication activities in the Region. (who.int)
  • In the 20 individuals with limited clinical information, additional phenotypes include Mungan syndrome (in patients with biallelic variants) and holoprosencephaly, with or without CdLS characteristics. (springer.com)
  • Medical histories were obtained, and clinical information, such as the results of physical, audiological, and blood tests, were collected from subjects and family members, when available. (biomedcentral.com)
  • Other frequently reported clinical characteristics are congenital heart defects, kidney problems, abnormalities of the female genitalia, spina bifida, anal abnormalities, positional foot deformities, hypertonia and self-harming behaviour. (biomedcentral.com)
  • Epidemiology of transmissible diseases: Array hybridization and next generation sequencing as universal nucleic acid-mediated typing tools. (cdc.gov)
  • Unlocking clinically translatable genomic information, including copy number alterations (CNA), from formalin-fixed paraffin-embedded (FFPE) tissue is challenging due to low yields and degraded DNA. (biomedcentral.com)
  • Each patient's data is anonymized, and represented only by an ID with an associated genotype and set of clinical symptoms (phenotypes). (wikipedia.org)
  • Whole-genome screening creates a personal genomic database (personal genome) that can subsequently be used to deliver 'personalised medicine' to individual patients. (nature.com)
  • The clinical course of patients with neuroblastoma is highly variable, ranging from spontaneous regression to widespread metastatic disease. (biomedcentral.com)
  • We analyzed the clinical data and performed immunohistochemistry for Epidermal growth factor receptor (EGFR) and Aurora kinase A (Aurora-A) expression in 180 SCCHN patients. (oncotarget.com)
  • Most patients with CMV infection exhibit few clinical findings on physical examination. (medscape.com)
  • In this work, we assess the reproducibility in clinical applications of radiosensitivity signatures. (bvsalud.org)
  • Control signatures developed from resampled in vitro data were benchmarked in clinical cohorts. (bvsalud.org)
  • The ultimate objective of the Area is to bring to the clinician complex algorithms for the management of complex genomics data in a transparent way for them, which ultimately foster the adoption of innovative technologies in the current clinical practice. (clinbioinfosspa.es)
  • Gentra is focused on the niche market of nucleic acid purification from large scale blood samples up to 10 ml. (webwire.com)
  • For the clinical variables, calibrated on the samples, either using all the clinical param- eters or the Nottingham Prognostic Index (NPI) parameters, the areas under the receiver operating characteristics (ROC) curve were 0.78 and 0.79, respectively. (lu.se)
  • performance when using conventional clinical variables. (lu.se)