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Conservation, relocation and duplication in genome evolution
Conservation, relocation and duplication in genome evolution

... housekeeping genes [19]. In view of the variety of explanations for the clustering of genes with similar expression levels, it seems an understatement to describe the situation as unsettled. Single-copy genes and multigene families In C. elegans, genes lacking paralogous copies are more likely to ha ...
Genome Analysis Excerpt from Chapter 11
Genome Analysis Excerpt from Chapter 11

... Biologists have collected the genome sequence, which is the complete DNA sequence of all of an organism’s chromosomes, of over 100 different organisms ranging from simple, one-celled organisms to multicellular organisms with complex developmental and life cycles. These DNA sequences include genes th ...
Alpha Thalassemia - ARUP Lab Test Directory
Alpha Thalassemia - ARUP Lab Test Directory

Genome browsers and other resources
Genome browsers and other resources

... Use Entrez nucleotides to retrieve the finished record AC009453 from the human genome project. ...
2012-04-16_Geuvadis_Analysis_CRG_Marc
2012-04-16_Geuvadis_Analysis_CRG_Marc

... 2c: adaptor clipping (searches for first 8 nts of adapter, 1 mismatch allowed) ...
Exome Sequencing Project release
Exome Sequencing Project release

... To detect associations with rare variants, analyses were performed by aggregating information from individual variants within a gene. This approach successfully detected an association with rare variants in the APOC3 gene that lowers triglyceride levels, an unhealthy type of fat in the blood, said D ...
Supplemental File S3. Homologous Chromosomes
Supplemental File S3. Homologous Chromosomes

Alpha Thalassemia - Lab Test Directory
Alpha Thalassemia - Lab Test Directory

Jam07_UCBerkeley
Jam07_UCBerkeley

... Patentability of Bactoblood may depend on what aspects of the invention are claimed in a patent application & how it is worded. ...
We need an optimality criterion to choose a best estimate (tree
We need an optimality criterion to choose a best estimate (tree

... organisms are so different? There are not likely to be many sequence homologies between bacteria, archaea, and eukaroytes. ...
Document
Document

... Finding SNPs: HapMap Browser 1. HapMap data sets are useful because individual genotype data in deeply sampled populations can be used to determine optimal genotyping strategies (tagSNPs) or perform population genetic analyses (linkage disequilbrium) ...
Gene - Representing Genes
Gene - Representing Genes

... any heritable change in the nucleotide sequence of a chromosome, which may occur either by the substitution of one nucleotide for another or by the translocation or inversion of a chromosome segment. In classical genetics, however, mutation was necessarily defined as a change in the intrinsic nature ...
What is Variation? - TGHSLevel1Science
What is Variation? - TGHSLevel1Science

Bioconductor`s SNPath package
Bioconductor`s SNPath package

... a set of SNPs that belongs to functional gene sets or pathways. The SNPath package contains four different algorithms in the literature: grass [1], gseaSnp [4], plinkSet [3] and aligator [2]. Users can use any one of them to identify pathways that are associated with disease risk; meanwhile, this pa ...
BLAST - AP Biology
BLAST - AP Biology

... 1. Navigate to NCBI and the BLAST page as usual. 2. At the top, click "Help" to go to the BLAST Documentation Page. 3. Under the heading "About BLAST," there is a handbook that has both novicefriendly sections as well as information for experienced users. BLAST documentation can be viewed online as ...
Understanding Evolutionary Relationships with
Understanding Evolutionary Relationships with

as a PDF
as a PDF

slides - ARUP.utah.edu - The University of Utah
slides - ARUP.utah.edu - The University of Utah

... „ May uncover copy number changes of unclear clinical significance „ Will not detect copy number changes in regions of the genome that are not on the array platform (chip) ...
Nontraditional Inheritance
Nontraditional Inheritance

... variation in the size of expansion in different cells and different tissues in the same individual. This is not a generalized trait of triplet repeat expansions, though, as it does not occur with the Huntington disease gene, Huntingtin (4p16.3). Anticipation refers to an observed phenomenon where a ...
Phylogeny, taxonomy, and evolution of the endothelin receptor gene
Phylogeny, taxonomy, and evolution of the endothelin receptor gene

... along the basal internode that interconnects the two most recent common ancestors of the two groups. The most obvious example of a type II position is one that is fixed for radically different amino acids between therians and non-therians. In contrast, a conserved position is one with a constant site ...
PPT - Bioinformatics.ca
PPT - Bioinformatics.ca

... • Genome-Scale Analysis (Omics) – Genomics, Proteomics ...
Case File 1: Hemophilia A
Case File 1: Hemophilia A

... • Recall that the X and Y chromosomes are responsible for determining an individual’s gender. Females have two copies of the X chromosome and males have one copy of the X chromosome and one copy of the Y chromosome. • The phenotype of X-linked conditions is determined by a gene on the X chromosome. ...
Shedding Genomic Ballast: Extensive Parallel Loss of Ancestral
Shedding Genomic Ballast: Extensive Parallel Loss of Ancestral

... that the stricter criteria tended to break up larger families into separate families (data not shown). Here we present only the results using the less strict criteria, since by these criteria it was less likely that a family would be scored as having been lost when it had merely diverged in sequence ...
Documentation for Candidate Gene Prioritization
Documentation for Candidate Gene Prioritization

here - FasterDB
here - FasterDB

... mouse genome (exon 15) among the WNK gene (A). CLIP-seq data for PTB at the exon level (B). Exon Arrays visualization when PTB is depleted in the Human (C) and Mouse (D). A. For each exon and 200 nucleotides of its intronic neighborhood on both sides, motifs corresponding to PTB binding sites are re ...
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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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