• specific genes
  • While it's known that ADHD has a strong genetic component, researchers have had limited success identifying specific genes or neural pathways that can explain it, the study authors said. (bio-medicine.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)
  • genomes
  • We have developed a robust and flexible methodology for high-resolution analysis of DNA copy number of whole genomes, using Affymetrix high-density expression oligonucleotide microarrays. (biomedcentral.com)
  • His earlier work at the Whitehead Institute and Whitehead/MIT Center for Genome Research (precursor to the Broad Institute) was instrumental in developing an understanding of patterns of variation in the human and mouse genomes, and in the use of these patterns in disease gene mapping. (unc.edu)
  • Scherer's discovery of frequent CNV events found in the genomes of all cells in every individual, co-published with Charles Lee of Harvard in 2004, opened a new window for studies of natural genetic variation, evolution and disease. (wikipedia.org)
  • Bioinformatic Harvester Gene Disease Database SNPedia Ensembl provides automatic annotation databases for human, mouse, other vertebrate and eukaryote genomes. (wikipedia.org)
  • The genomes of more than a thousand anonymous participants from a number of different ethnic groups were analyzed and made publicly available. (wikipedia.org)
  • rRNA gene
  • Variations in gut microbiota and fecal metabolic phenotype associated with Fenbendazole and Ivermectin Tablets by 16S rRNA gene sequencing and LC/MS-based metabolomics in Amur tiger. (bioportfolio.com)
  • ITS1 corresponds to the ITS in bacteria and archaea, while ITS2 originated as an insertion that interrupted the ancestral 23S rRNA gene. (wikipedia.org)
  • Each eukaryotic ribosomal cluster contains the 5' external transcribed sequence (5' ETS), the 18S rRNA gene, the ITS1, the 5.8S rRNA gene, the ITS2, the 26S or 28S rRNA gene, and finally the 3' ETS. (wikipedia.org)
  • 1,200
  • an additional 125 graduate students and 500 administrative and support personnel bring the total number of employees to over 1,200. (wikipedia.org)
  • microarray
  • We describe an unconventional approach for copy number detection using commercially available E. coli high-density expression arrays that includes raw data normalization, background correction, data transformation based on a physical model of the microarray hybridization process, and deletion/duplication detection using a hidden Markov model approach. (biomedcentral.com)
  • The research team of more than 120 scientists in 11 countries used microarray techniques to study the DNA of 1,500 families. (medpagetoday.com)
  • He extended support vector machines to handle kernels that are not positive definite with the "Potential Support Vector Machine" (PSVM) model, and applied this model to feature selection, especially to gene selection for microarray data. (wikipedia.org)
  • disrupt
  • It is thought that changes in the regulation of gene activity can disrupt protein production and cell processes and result in disease. (wikipedia.org)
  • variant
  • Of the alternatively spliced mRNAs, isoform 1 is the longest variant of the gene and is the subject of this article. (wikipedia.org)
  • Brown KH, Dobrinski KP, Lee AS et al (2012) Extensive genetic diversity and substructuring among zebrafish strains revealed through copy number variant analysis. (springer.com)
  • The study is reporting, using very sophisticated molecular genetic techniques, that a small percentage of children with ADHD have an identifiable, rare copy number variant, or a deletion or duplication of part of a gene," Adesman said. (bio-medicine.org)
  • This enables a better ascertainment of whether a copy number change is a normal polymorphic variant, or the likely cause of the patient's clinical symptoms. (wikipedia.org)
  • tumor
  • 2 ] introduced a matrix-CGH technique in which target DNA was immobilized onto glass slides and hybridized with tumor DNA. (biomedcentral.com)
  • Our findings indicate that, in spite of the recurrence of AHRR‑NCOA2 in angiofibroma of soft tissue, additional genetic events (or fusion genes) might be required for the development of this tumor. (cancerindex.org)
  • These include a minimum of 200 mg in size, no less than 80% tumor nuclei and a matched source of germline DNA (such as blood or purified DNA). (wikipedia.org)
  • Genetics
  • Conrad DF, Hurles ME (2007) The population genetics of structural variation. (springer.com)
  • DNA Data Bank of Japan (National Institute of Genetics) EMBL (European Bioinformatics Institute) GenBank (National Center for Biotechnology Information) The three databases, DDBJ (Japan), GenBank (USA) and European Nucleotide Archive (Europe), are repositories for nucleotide sequence data from all organisms. (wikipedia.org)
  • Chromosomal imbalances are a major cause of developmental delay, learning disabilities and congential 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)
  • expression
  • Study of DNA Copy Numbers Variations and Gene Expression Profile of Bone Marrow Plasma Cells From MGUS and SMM. (clinicaltrials.gov)
  • The purpose of this study is to describe DNA copy number variations and gene expression profiles of bone marrow plasma cells of monoclonal gammopathy of undetermined significance (MGUS) and smoldering multiple myeloma (SMM). (clinicaltrials.gov)
  • Large Scale Study of DNA Copy Numbers Variations and Gene Expression Profile of Bone Marrow Plasma Cells From Monoclonal Gammopathy of Undetermined Significance (MGUS) and Indolent Myeloma (SMM). (clinicaltrials.gov)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • Although this approach in other systems has typically required a translation-enhancing element such as an internal ribosome entry site for the downstream marker, we found that a short stretch of unstructured junction sequence was sufficient to obtain adequate expression of the downstream gene, presumably through post-termination reinitiation. (stanford.edu)
  • and (d) current understanding of epigenetic mechanisms whereby environmental events may alter behavioral expression of genetic variations. (frontiersin.org)
  • Determining the location of these regulatory elements and how they influence gene transcription could reveal links between variations in the expression of certain genes and the development of disease. (wikipedia.org)
  • discrete
  • In a series of papers starting in 1918 and culminating in his 1930 book The Genetical Theory of Natural Selection, Fisher showed that the continuous variation measured by the biometricians could be produced by the combined action of many discrete genes, and that natural selection could change allele frequencies in a population, resulting in evolution. (wikipedia.org)
  • microarrays
  • 1 Until recently, analysis has been targeted largely to defined genes, but pan-genomic approaches, such as microarrays, gene-panel testing and exome sequencing, have become mainstream. (cmaj.ca)
  • humans
  • citation needed] Genetic variation among humans occurs on many scales, from gross alterations in the human karyotype to single nucleotide changes. (wikipedia.org)
  • Humans are estimated to have approximately 20,000 protein-coding genes, which account for about 1.5% of DNA in the human genome. (wikipedia.org)
  • Proline-rich protein 30 (PRR30 or C2orf53) is a protein in humans that is encoded for by the PRR30 gene. (wikipedia.org)
  • repeats
  • In eukaryotes, genes encoding ribosomal RNA and spacers occur in tandem repeats that are thousands of copies long, each separated by regions of non-transcribed DNA termed intergenic spacer (IGS) or non-transcribed spacer (NTS). (wikipedia.org)
  • Because of its higher degree of variation than other genic regions of rDNA (for example, small- and large-subunit rRNA), variation among individual rDNA repeats can sometimes be observed within both the ITS and IGS regions. (wikipedia.org)
  • cDNA
  • Digital polymerase chain reaction (digital PCR, DigitalPCR, dPCR, or dePCR) is a biotechnological refinement of conventional polymerase chain reaction methods that can be used to directly quantify and clonally amplify nucleic acids strands including DNA, cDNA or RNA. (wikipedia.org)
  • pathways
  • Many of the genes are involved in a few pathways with effects on cellular proliferation, projection and motility, and cell-to-cell signaling. (medpagetoday.com)
  • Instead of finding one or more "ADHD" or "autism" genes, research is beginning to uncover neural pathways that influence the way a brain develops and works, said senior study author Dr. Russell Schachar, a senior scientist and child psychiatrist at the Hospital for Sick Children in Toronto. (bio-medicine.org)
  • strands
  • These more complicated graphs happen due to either read errors or variations in DNA strands. (wikipedia.org)
  • Since most DNA strands will likely include read errors and variations, scientists hope to use an assembly process that can merge nodes of the graph when they are unambiguously connected after the graph has been cleaned of vertices and edges created by the errors. (wikipedia.org)
  • research
  • Instead of finding one or more ADHD or autism genes research is b. (bio-medicine.org)
  • His research has historically focused on the development and application of statistical methods for the discovery and interpretation of genetic variation responsible for complex human disease and with the creation of the ATGU, he and other core faculty are focused on the interpretation of genome sequence and the use of genome information in clinical settings. (unc.edu)
  • The Encyclopedia of DNA Elements (ENCODE) is a public research project which aims to identify functional elements in the human genome. (wikipedia.org)
  • DNA Research. (wikipedia.org)
  • probes
  • In addition to probes for all annotated genes in the E. coli genome, probes for small unannotated genes, untranslated RNA, and uncharacterized intergenic regions were included in the design. (biomedcentral.com)
  • A PCR solution is made similarly to a TaqMan assay, which consists of template DNA (or RNA), fluorescence-quencher probes, primers, and a PCR master mix, which contains DNA polymerase, dNTPs, MgCl2, and reaction buffers at optimal concentrations. (wikipedia.org)
  • allele
  • In a series of papers beginning in 1924, another British geneticist, J.B.S. Haldane, worked out the mathematics of allele frequency change at a single gene locus under a broad range of conditions. (wikipedia.org)
  • clinical
  • He also has a longstanding effort in the mapping of genes for Crohn's disease and ulcerative colitis where he helped found and lead an international effort that has identified more than 150 genetic risk factors and, in collaboration with Dr. Ramnik Xavier's group, pursues the functional interpretation and clinical ramifications of these continued gene discovery efforts. (unc.edu)
  • patients
  • Members can visualise the genes within the region of DNA altered in their patients, and ascertain whether any are known to be implicated in disease. (wikipedia.org)
  • 78% of the patients displaying type 1-associated cutaneous neurofibromas carried an extra copy of the PRR30 gene. (wikipedia.org)
  • scientists
  • After 2007, the number of participants grew up to 440 scientists from 32 laboratories worldwide as the pilot phase was officially over. (wikipedia.org)
  • The ENCODE pilot project process involved close interactions between computational and experimental scientists to evaluate a number of methods for annotating the human genome. (wikipedia.org)
  • several
  • Larger genomic CNV changes involving losses or gains of thousands or millions of nucleotides encompassing one or several genes were thought to be exceptionally rare, and almost always involved in disease. (wikipedia.org)