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... It contains a total of about 2,000 genetic diseases [and another ~11,000 genetic loci with known phenotypes - but not necessarily known gene sequences] It is designed for use by physicians:  can search by disease name  contains summaries from clinical studies ...
2.4.databases_ensembl - T
2.4.databases_ensembl - T

... – Everyone expects to be able to access them immediately • Bench Biologists – Has my gene been sequenced? – What are the genes in this region? – Where are all the GPCRs – Connect the genome to other resources • Research Bioinformatics – Give me a dataset of human genomic DNA – Give me a protein data ...
CHAPTER 8 (CHOMOSOME MUTATION: CHANGES IN
CHAPTER 8 (CHOMOSOME MUTATION: CHANGES IN

Recurrent Tandem Gene Duplication Gave Rise
Recurrent Tandem Gene Duplication Gave Rise

... acquired a novel transcript. Biased polymorphism frequency spectrum, linkage disequilibrium, nucleotide substitution, and McDonald–Kreitman analyses suggested that the evolution of CG6999 and CG32706 were driven by positive Darwinian selection. ...
Changes in chromosome structure (continued):
Changes in chromosome structure (continued):

FACT SHEET 88 8 AUTOSOMAL RECESSIVE INHERITANCE— Traditional patterns of inheritance 1
FACT SHEET 88 8 AUTOSOMAL RECESSIVE INHERITANCE— Traditional patterns of inheritance 1

... Where there is generally no effect on a person’s health or development from carrying a faulty copy of a gene the mutation is described as being recessive Individuals who are ‘carriers’ of a faulty autosomal recessive gene for a particular condition are genetic carriers for the condition; they do not ...
Read the first chapter
Read the first chapter

... not seeking mental rehabilitation as much as a physical sanctuary. An assortment of antipsychotic medicines was prescribed, and he improved gradually—but never enough, apparently, to merit discharge. A few months later, with Moni still confined at the institution, his father died. His mother had alr ...
Guidelines for Genetic Nomenclature and Community Governance
Guidelines for Genetic Nomenclature and Community Governance

... the same three-letter symbol, will be distinguished by a number following the three letters (e.g., dmi1 versus dmi2). 5. Different alleles of the same gene will be distinguished by different numbers following the symbol, locus number, and a hyphen (e.g., dmi1-1 versus dmi1-2). If only one allele is ...
Illumina Infinium HumanMethylation450 BeadChip Data
Illumina Infinium HumanMethylation450 BeadChip Data

... powerful embedded statistics and visualizations to yield deep biological interpretation. Going from raw data to biological interpretation has never been easier. ...
IJBT 10(2) 178-182
IJBT 10(2) 178-182

... species including human, mouse, cattle, sheep, dog, lemur and Sminthopsis macroura has shown that the Y chromosome PAR genes are not conserved across mammalian species18. bTSPY is located in the region of the Y chromosome that does not take part in recombination. TSPY gene families of cattle, sheep ...
Cross-Validation Experiment
Cross-Validation Experiment

... S1). To compute a background distribution of the test statistics we again used degree-preserving network rewiring. As we hoped, significant gene sets were exceedingly more abundant than significant genes in the analogous single-gene test (see Tables A to X in Dataset S1). The most significant result ...
portable document (.pdf) format
portable document (.pdf) format

... ROC curves by choosing different thresholds for gene calls. I repeat the process for 50 times. Each point on the ROC curves is the average of 50 true/false positive rates when I select a same value for the gene call. Figure 1 shows the estimated true/false-positive rates based on 50 simulations. Whe ...
DNA, RNA, and Snorks
DNA, RNA, and Snorks

... Name _________________________________________________________Date________ ...
Continuous variations
Continuous variations

... Question 3: What does it mean to be ‘fit’ in terms of natural selection? ...
Gene Interactions – Extensions to Mendelian Genetics
Gene Interactions – Extensions to Mendelian Genetics

... Look at the F2 phenotypic ratios!! • If one gene is involved in the trait, then the monohybrid phenotypic ratio is: 3:1 or 1:2:1 or 2:1 • If two genes are involved in the trait, then the dihybrid phenotypic ratio is: 9:3:3:1 or some permutation (9:4:3 or 9:7 or 12:3:1) "The 1/16 class is always the ...
19EBarrays
19EBarrays

... An example of how the model is imagined to generate the data for the jth gene. • Suppose p=0.05, α=12, α0=0.9, and v=36. • Generate a Bernoulli random variable with success probability 0.05. If the result is a success the gene is DE, otherwise the gene is EE. • If EE, generate λj from Gamma(α0=0.9, ...
GeneFarm, structural and functional annotation of Arabidopsis gene
GeneFarm, structural and functional annotation of Arabidopsis gene

... bottlenecks (18) and of the performances of prediction software (19), a minimum annotation protocol (i.e. mandatory steps) was defined. For example, at the gene structure level, the minimum protocol uses the Eugene (20) and GeneMark.hmm (21) programs, which were specially trained with Arabidopsis da ...
(TSS) report - GEP Community Server
(TSS) report - GEP Community Server

... From base to base Note: In some cases, the reconciled gene models (available under "Genes and Gene Prediction Tracks" this "Reconciled Gene GEP UCSC Genome Browser) might incorrect Complete report form for Models" each geneoninthe your project. Copy and paste this form tobe create as because of mis ...
An Introduction to Affymetrix Microarrays
An Introduction to Affymetrix Microarrays

... Format of an Affymetrix Array •Each gene is represented by a “probe set” •Each “probe set” is 16-20 pairs of oligos •Each oligo is 25 nucleotides •A PM (perfect match) probe matches a strand of cDNA •The corresponding MM (mismatch) probe differs from the PM by a change in the central nucleotide •Th ...
A Degenerate ParaHox Gene Cluster in a Degenerate Vertebrate
A Degenerate ParaHox Gene Cluster in a Degenerate Vertebrate

... to date, a maximum of one intact cluster remains. The en bloc duplication of ParaHox gene clusters may be symptomatic of a larger scale duplication event. It has been hypothesized, and is becoming generally accepted, that 2 whole-genome duplications occurred on the vertebrate stem after the divergen ...
I = -[1/3*log 2 (1/3)+ 1/3*log 2 (1/3)+ 1/3*log 2 (1/3)] + 4.32 = 2.73
I = -[1/3*log 2 (1/3)+ 1/3*log 2 (1/3)+ 1/3*log 2 (1/3)] + 4.32 = 2.73

... BLAT genome Browser http://genome.ucsc.edu// ...
Familial Adenomatous Polyposis (FAP)
Familial Adenomatous Polyposis (FAP)

Gene duplication and evolutionary novelty in
Gene duplication and evolutionary novelty in

... Finally, an important contribution to the evolution by duplication theory is the observation that duplications must maintain proper dosage balance among dosage-sensitive genes (Veitia et al., 2008). If a duplication event produces a dosage imbalance in a finely tuned gene network or protein complex ...
Inheritance - Fiendishlyclever
Inheritance - Fiendishlyclever

... • Cut out spines A and B. • Cut out the rungs. • Fold down the tabs so that they are at right angles to the rungs (as shown in the picture). • Put glue on one tab of each rung and stick them onto spine A in the numbered boxes. You can attach the rungs in any order (pointing either way). Wait for the ...
Slide 1 - Annals of Internal Medicine
Slide 1 - Annals of Internal Medicine

... and q arm (long arm). The cytochemical banding pattern has been used for several decades to localize genes and markers. Early studies of multiple endocrine neoplasia type 1 (MEN1) linked it to the PYGM marker (not shown) at 11q13 (chromosome 11, band q13) . B. The two copies of chromosome 11 from an ...
< 1 ... 56 57 58 59 60 61 62 63 64 ... 142 >

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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