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1.5MB - Whitehead Institute for Biomedical Research
1.5MB - Whitehead Institute for Biomedical Research

Gaining biological specificity in gene set analysis by correcting for
Gaining biological specificity in gene set analysis by correcting for

...  Most results are based on ranking GO terms  Only small percentage is expected to be significant and relevant  Need to add similar comparisons considering only significant GO terms or comparing the actual p-values ...
Leukaemia Section t(11;20)(p15;q11) Atlas of Genetics and Cytogenetics in Oncology and Haematology
Leukaemia Section t(11;20)(p15;q11) Atlas of Genetics and Cytogenetics in Oncology and Haematology

... Structural diagrams of NUP98, TOP1, and fused chimeras. Fused protein has N-terminal of NUP98, which contains two FG repeats, and the core, link and catalytic domains of TOP1. Gene product of TOP1/NUP98 (150kD) has been demonstrated, but the fused protein of TOP1/NUP98 has not been examined. Iwase S ...
Synthetic Life - Colin Mayfield
Synthetic Life - Colin Mayfield

... • Numerous malaria pathogens are resistant to the first generation drug • Artemisinin is a second generation drug that can treat malaria ...
Using mouse genetics to understand human disease
Using mouse genetics to understand human disease

... – We now recognize this inheritance as being carried by variation in DNA ...
Genes that are located on the same
Genes that are located on the same

... are on the X chromosome, because the Y chromosome has relatively few genes. Strictly speaking, genes on the X chromosome are X-linked genes, but the term sex-linked is often used to refer to them. **An example of a sex linked gene is the gene for color blindness. ...
Catecholaminergic Polymorphic Ventricular Tachycardia Panel
Catecholaminergic Polymorphic Ventricular Tachycardia Panel

... with the majority of cases being caused by mutations in the RYR2 gene. The Catecholaminergic Polymorphic Ventricular Tachycardia Panel includes all of common genetic causes related to this disease. ...
Orthology, Paralogy, Chains, and Nets - CS273a
Orthology, Paralogy, Chains, and Nets - CS273a

... chicken chicken ≈ 1013 copies (DNA) of egg (DNA) ...
Mutations of APC, K-ras, and p53 Are Associated
Mutations of APC, K-ras, and p53 Are Associated

... 8p (10 –14). Moreover, some chromosomal abnormalities have been reported to occur more frequently than the commonly mutated genes, providing persuasive evidence of their fundamental importance in colorectal neoplasia. Although extensive knowledge now exists regarding both specific gene mutation and ...
Mark Scheme - A-level Biology Tutor
Mark Scheme - A-level Biology Tutor

Gene Tagging with Transposons
Gene Tagging with Transposons

... • Transposable elements are stretches of DNA that can move to new locations in a genome • These elements can contain genes or be non-coding • Large portions of higher eukaryotes’ genomes are composed of either inert or active transposons (often as repetitive DNA) • Transposons are thus important evo ...
Slide 1
Slide 1

... way to test the support for a particular tree given the underlying data • The underlying data are not the state of the art but cannot use codon + ML for speed • Limited by multiple alignment • Reconciliation with species tree can mask real gene losses/duplications ...
Supplementary Information (doc 83K)
Supplementary Information (doc 83K)

Unraveling Your DNA`s Secrets Do-it-yourself genetic tests promise
Unraveling Your DNA`s Secrets Do-it-yourself genetic tests promise

... Graceful Earth, agrees that having APOEe4 doesn't mean that someone will get Alzheimer's. "We've gotten criticism from doctors," he says. "But I think people really want to know, especially if they'd had it in their family." Knowing a person is at increased risk, he says, could prompt him or her to ...
The Cystic Fibrosis Gene
The Cystic Fibrosis Gene

... aerosol delivery, this kind of treatment depends on the use of retroviruses to get the new gene inserted into the patient’s DNA. These techniques of retroviral therapy invivo are sadly not yet adequately devel­ oped, but who knows what will happen in the future? ...
KDIGO Controversies Conference on Gitelman Syndrome
KDIGO Controversies Conference on Gitelman Syndrome

... A potential mechanism for interfamilial phenotype heterogeneity in GS could be  differences in the functional consequences of mutations in SLC12A3.  Heterologous  expression of NCC using Xenopus laevis oocytes has permitted functional effects of GS  mutants to be tested.  Like many integral plasma m ...
Transcriptional Induction of Genes Encoding ER Resident Proteins
Transcriptional Induction of Genes Encoding ER Resident Proteins

... media containing either 100g/ml inositol or no inositol. •CS165 and CS171 show reduced growth, corresponding to mutations in IRE1. ...
File
File

Presentation heading
Presentation heading

... • Early detection and improved treatments • Affluent patients have 5 to 9% survival advantage over most deprived groups • Over 2000 deaths would be avoided if this difference is removed ...
1 MIDTERM EXAM 1 100 points total (6 questions) Problem 1. (20
1 MIDTERM EXAM 1 100 points total (6 questions) Problem 1. (20

The complete mitochondrial genome of the demosponge
The complete mitochondrial genome of the demosponge

... F. Belinky et al. / Molecular Phylogenetics and Evolution xxx (2008) xxx–xxx ...
Chapter04_Outline
Chapter04_Outline

... • The aberrant asci are said to result from gene conversion because it appears as if one allele has “converted” the other allele into a form like itself ...
Detection of Five Rare Cystic Fibrosis Mutations Peculiar to
Detection of Five Rare Cystic Fibrosis Mutations Peculiar to

... 396 cystic fibrosis alleles in Southern Italy. The observation of frequent haplotypes on the unidentified cystic fibrosis alleles suggested that a few mutations could account for a large number of unidentified alleles. Methods: We screened most of the coding sequence of the cystic fibrosis transmemb ...
document
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... Question: What is the mechanistic basis for signaling? What are the signals and receptors? What are the molecular targets of the signals? How is signaling regulated? ...
Slide 1
Slide 1

... Background: In 2006 the American Society of Clinical Oncology (ASCO) recommended that oncologists discuss infertility as a result of cancer treatment with patients of reproductive age and provide referrals to specialists as needed. Despite these guidelines the majority of cancer centers are not in c ...
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Oncogenomics



Oncogenomics is a relatively new sub-field of genomics that applies high throughput technologies to characterize genes associated with cancer. Oncogenomics is synonymous with ""cancer genomics"". Cancer is a genetic disease caused by accumulation of mutations to DNA leading to unrestrained cell proliferation and neoplasm formation. The goal of oncogenomics is to identify new oncogenes or tumor suppressor genes that may provide new insights into cancer diagnosis, predicting clinical outcome of cancers, and new targets for cancer therapies. The success of targeted cancer therapies such as Gleevec, Herceptin, and Avastin raised the hope for oncogenomics to elucidate new targets for cancer treatment.Besides understanding the underlying genetic mechanisms that initiates or drives cancer progression, one of the main goals of oncogenomics is to allow for the development of personalized cancer treatment. Cancer develops due to an accumulation of mutations in DNA. These mutations accumulate randomly, and thus, different DNA mutations and mutation combinations exist between different individuals with the same type of cancer. Thus, identifying and targeting specific mutations which have occurred in an individual patient may lead to increased efficacy of cancer therapy.The completion of the Human Genome Project has greatly facilitated the field of oncogenomics and has increased the abilities of researchers to find cancer causing genes. In addition, the sequencing technologies now available for sequence generation and data analysis have been applied to the study of oncogenomics. With the amount of research conducted on cancer genomes and the accumulation of databases documenting the mutational changes, it has been predicted that the most important cancer-causing mutations, rearrangements, and altered expression levels will be cataloged and well characterized within the next decade.Cancer research may look either on the genomic level at DNA mutations, the epigenetic level at methylation or histone modification changes, the transcription level at altered levels of gene expression, or the protein level at altered levels of protein abundance and function in cancer cells. Oncogenomics focuses on the genomic, epigenomic, and transcript level alterations in cancer.
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