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Introduction: - Statistical Science
Introduction: - Statistical Science

... Figure SF1. This figure compares the empirical null and observed distributions in the Diabetes example for a randomly generated collection of 1000 gene sets (top) and the functional gene sets (S2 database) before and after normalization (i.e., area under positive and negative density distributions e ...
Overview of the genes of watermelon1
Overview of the genes of watermelon1

... (2003, 2004). There are 170 total listed genes, with 111 markers (protein or isozyme loci, RFLP and RAPD DNA markers, and cloned genes), and 59 morphological and resistance traits. The latter can be grouped into seed and seedling traits, vine traits, flower traits, fruit traits, and resistance loci. ...
Molecular Cloning of Clostridium Perfringens Type B Vaccine Strain
Molecular Cloning of Clostridium Perfringens Type B Vaccine Strain

... beta, epsilon and iota). C. perfringens type B beta toxin causes inflammation and bloody necrotic enteritis. Type B related enterotoxaemia is a major problem of veterinary sciences. The aim of the present study was to clone and sequence C. perfringens type B vaccine strain beta toxin gene. Genomic D ...
Correlation between sequence divergence and polymorphism
Correlation between sequence divergence and polymorphism

... produced hundred of contigs, however many of these were identified as bacterial or nuclear contamination. By visualizing the remaining contigs in Consed v21 [21] and using information regarding reads that span multiple contigs, 63 of the initial contigs were reassembled into nine final contigs with ...
PraderWilli syndrome resulting from an unbalanced translocation
PraderWilli syndrome resulting from an unbalanced translocation

... by the map position of the deleted BAC and the flanking BAC. In addition to the deletion on chromosome 5p, a deletion of the long arm of one copy of chromosome 15 was present, as indicated by five BACs (Fig. 5b) with the average log2 ratio ¼ 0.82  0.09. This deletion was concordant with the standa ...
Reciprocal Deletion and Duplication of 17p11.2-11.2
Reciprocal Deletion and Duplication of 17p11.2-11.2

... and failure to thrive. In our cases, both of our patients showed developmental language delay and intellectual disability. Although patient 1 was too young to show full expression of clinical features, he showed mildly dysmorphic features including a broad, square-shaped forehead, brachycephaly, an ...
The bonobo genome compared with the chimpanzee and human
The bonobo genome compared with the chimpanzee and human

... barrier to gene flow that allowed bonobos and chimpanzees to evolve different phenotypes over a relatively short time. Because the population split between bonobo and chimpanzee occurred relatively close in time to the split between the bonobo– chimpanzee ancestor (Pan ancestor) and humans, not all ...
TEV_v7_BY
TEV_v7_BY

... colour, obesity, diabetes and tumour susceptibility 9,10. Evidence that TEs have often been detrimental derives principally from a bias in the orientation, with respect to gene transcription, by which TEs have been observed within introns. Human intronic ERVs and LINEs, but not SINEs, show a tendenc ...
Poster: Litter size in Norwegian White Sheep
Poster: Litter size in Norwegian White Sheep

... V371M) is associated with an increase in litter size. The mutation increases the litter size by approximately 0.3 lambs per copy of the allele. The variance in litter size increases with the mean. 850 ewes from flocks with both a high genetic level for litter size and phenotypically large litters we ...
Why Mitochondrial Genes are Most Often Found in Nuclei
Why Mitochondrial Genes are Most Often Found in Nuclei

univERsity oF copEnhAGEn
univERsity oF copEnhAGEn

... the exon organisation of the FCN genes was very similar between all the non-human primates and the human FCN genes. Several variations in the FCN genes were found in more than one primate specie suggesting that they were carried from one species to another including humans. The amino acid diversity ...
Origin of New Genes: Evidence from Experimental
Origin of New Genes: Evidence from Experimental

... proteins may have been transferred from organellar genomes in a transposition process (Palmer, 1985; Nugent & Palmer, 1991). Because these genes are transcribed in the nucleus and translated in the cytoplasm, the derived proteins have to be moved to and specifically recognize the organelles (e.g., m ...
Construction of nanA mutants
Construction of nanA mutants

... SacIR. The PCR products generated from the 3 individual reactions were then cleaned and digested with the appropriate enzymes, cleaned again, and then ligated. The ligation mix was used as template for an extended PCR using KOD polymerase and primers SP1693_Janus1 and SP1693_Janus4. This PCR product ...
Development Duplication
Development Duplication

... amount  of  animals  in  the  Brangus  herd.         4. We  encourage  all  cattlemen  to  educate  themselves  as  to  how  these  genetic  conditions  are  inherited,  what   procedures  to  follow  in  the  event  of  an  unusual ...
Creating conditional dual fluorescence labelled transgenic animals
Creating conditional dual fluorescence labelled transgenic animals

... 3kb by sonication with Qsonicasonicator (Fisher Scientific). Prior to sonication, the mouse DNA samples were diluted to 0.01 µg/µl and a final volume of 100 µl. The sonication was set on low power and sonication was performed with 30 sec ON, 30 sec OFF cycles. To achieve 3 kb fragment, 4 to 5 cycles ...
The Rate and Tract Length of Gene Conversion between
The Rate and Tract Length of Gene Conversion between

... technical problem is that, in a simple experimental design with a single selected marker, an estimated rate may include both gene conversion and unequal crossing-over because they have an identical outcome. Such a rate cannot be fairly compared with an estimate from a more sophisticated experiment, ...
View PDF
View PDF

... hypothesis is supported by the observation that many genes on the human X escape inactivation, although they have no active Y partner (Carrel and Willard, 2005). The clustering of these escapees in domains in the recently added layer of the X suggests that the process lags behind Y degradation and i ...
The landscape of microbial phenotypic traits and associated genes
The landscape of microbial phenotypic traits and associated genes

... applied, meaning these provisional annotations could potentially be reassigned. Inferring phenotypes from genomes and metagenomes Prokaryotic genome sequences and gene annotations were from NCBI Entrez Genomes, while COG/NOG gene families were from eggNOG 3 (38). We only considered species with avai ...
Families of SMA - Children with Spinal Muscular Atrophy
Families of SMA - Children with Spinal Muscular Atrophy

... exon 7 from both of their SMN1 genes ~6% of SMA patients have an exon 7 deletion on one SMN1 gene copy and a small mutation on the second SMN1 copy Rarely, SMA patients may have non-deletion mutations on both SMN1 gene copies (estimated to be ~1 in 1,000 people with SMA) ...
Information Encoding in Biological Molecules: DNA and
Information Encoding in Biological Molecules: DNA and

... Other access methods: Disease View ...
Studies of codon usage and tRNA genes of 18 unicellular organisms
Studies of codon usage and tRNA genes of 18 unicellular organisms

... Received 1 March 1999; received in revised form 7 May 1999; accepted 1 June 1999 ...
Microbial Gene Transfer: An Ecological
Microbial Gene Transfer: An Ecological

... and Paul, 1998). Even though the transfer frequencies observed may be low, this does not mean that gene transfer has had very little impact on microbial communities. Low frequencies of transfer over geologic time is believed to be a major driving force in microbial evolution (Pennisi, ...
A recurrent deletion syndrome at chromosome bands 2p11
A recurrent deletion syndrome at chromosome bands 2p11

... Diagnostic implementation of oligoarray-based copy number variant (CNV) profiling in patients with intellectual disability and/ or developmental delay has identified genomic regions that are recurrently prone to copy number change, as well as sporadic (ie, ‘patient-unique’) gains and losses.1 Recurr ...
CGH Microarray Solutions for Genome-Wide Genetic Analysis
CGH Microarray Solutions for Genome-Wide Genetic Analysis

... Agilent’s 2-color CGH array provides superior copy number data as opposed to 1-color because sample and reference DNA are directly compared. Agilent’s long 60-mer probes are more specific than probes that are shorter in length, allowing you to use fewer probes to make accurate calls. ...
Gene Nomenclature System for Rice
Gene Nomenclature System for Rice

... or the phenotype rendered due to mutant or allelic forms of this gene. The locus designator consists of one to three digits and differentiates a gene at a particular locus from genes at other loci that confer a similar function or phenotype. The number used as the locus designator indicates the orde ...
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Copy-number variation



Copy-number variations (CNVs)—a form of structural variation—are alterations of the DNA of a genome that results in the cell having an abnormal or, for certain genes, a normal variation in the number of copies of one or more sections of the DNA. CNVs correspond to relatively large regions of the genome that have been deleted (fewer than the normal number) or duplicated (more than the normal number) on certain chromosomes. For example, the chromosome that normally has sections in order as A-B-C-D might instead have sections A-B-C-C-D (a duplication of ""C"") or A-B-D (a deletion of ""C"").This variation accounts for roughly 13% of human genomic DNA and each variation may range from about one kilobase (1,000 nucleotide bases) to several megabases in size. CNVs contrast with single-nucleotide polymorphisms (SNPs), which affect only one single nucleotide base.
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