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Results 1 - 10
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400
The diploid genome sequence of an individual human
- PLoS Biol
"... Presented here is a genome sequence of an individual human. It was produced from;32 million random DNA fragments, sequenced by Sanger dideoxy technology and assembled into 4,528 scaffolds, comprising 2,810 million bases (Mb) of contiguous sequence with approximately 7.5-fold coverage for any given r ..."
Abstract
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Cited by 293 (6 self)
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inversions, as well as numerous segmental duplications and copy number variation regions. Non-SNP DNA variation accounts for 22 % of all events identified in the donor, however they involve 74 % of all variant bases. This suggests an important role for non-SNP genetic alterations in defining the diploid
Normalization for cDNA microarray data: a robust composite method addressing single and multiple slide systematic variation
, 2002
"... There are many sources of systematic variation in cDNA microarray experiments which affect the measured gene expression levels (e.g. differences in labeling efficiency between the two fluorescent dyes). The term normalization refers to the process of removing such variation. A constant adjustment is ..."
Abstract
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Cited by 718 (9 self)
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There are many sources of systematic variation in cDNA microarray experiments which affect the measured gene expression levels (e.g. differences in labeling efficiency between the two fluorescent dyes). The term normalization refers to the process of removing such variation. A constant adjustment
Estimation of the number of nucleotide substitutions in the control region of mitochondrial DNA in humans and chimpanzees.
- Mol Biol Evol
, 1993
"... Examining the pattern of nucleotide substitution for the control region of mitochondrial DNA ( mtDNA ) in humans and chimpanzees, we developed a new mathematical method for estimating the number of transitional and transversional substitutions per site, as well as the total number of nucleotide sub ..."
Abstract
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Cited by 925 (4 self)
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substitutions. In this method, excess transitions, unequal nucleotide frequencies, and variation of substitution rate among different sites are all taken into account. Application of this method to human and chimpanzee data suggested that the transition / transversion ratio for the entire control region was -15
On Differential Variability of Expression Ratios: Improving . . .
- JOURNAL OF COMPUTATIONAL BIOLOGY
, 2001
"... We consider the problem of inferring fold changes in gene expression from cDNA microarray data. Standard procedures focus on the ratio of measured fluorescent intensities at each spot on the microarray, but to do so is to ignore the fact that the variation of such ratios is not constant. Estimates o ..."
Abstract
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Cited by 265 (7 self)
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We consider the problem of inferring fold changes in gene expression from cDNA microarray data. Standard procedures focus on the ratio of measured fluorescent intensities at each spot on the microarray, but to do so is to ignore the fact that the variation of such ratios is not constant. Estimates
Estimating the Pattern of Nucleotide Substitution
- Journal of Molecular Evolution
, 1994
"... Knowledge of the pattern of nucleotide substitution is important both to our understanding of molecular sequence evolution and to reliable estimation of phylogenetic relationships. The method of parsimony analysis, which has been used to estimate substitution patterns in real sequences, has serious ..."
Abstract
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Cited by 233 (17 self)
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better than HKY85, while, for a segment of mtDNA sequences from nine primates, REV cannot provide a significantly better fit than HKY85 when rate variation over sites is taken into account in the models. It is concluded that the use of the REV model in phylogenetic analysis can be recommended, especially
Estimation of the proportion of genetic variation accounted for by DNA tests
- Proc. 41st Beef Improvement Federation
, 2009
"... An increasingly relevant question in evaluating commercial DNA tests is "What proportion of the additive genetic variation in the target trait is accounted for by the test? " Therefore, several estimators of this quantity were evaluated by simulation of a population of 1000 animals with 10 ..."
Abstract
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Cited by 1 (0 self)
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An increasingly relevant question in evaluating commercial DNA tests is "What proportion of the additive genetic variation in the target trait is accounted for by the test? " Therefore, several estimators of this quantity were evaluated by simulation of a population of 1000 animals
RNASEL and MIR146A SNP-SNP Interaction as a Susceptibility Factor for Non-Melanoma Skin Cancer
"... Immunity and inflammatory pathways are important in the genesis of non-melanoma skin cancers (NMSC). Functional genetic variation in immune modulators has the potential to affect disease etiology. We investigated associations between common variants in two key regulators, MIR146A and RNASEL, and the ..."
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Immunity and inflammatory pathways are important in the genesis of non-melanoma skin cancers (NMSC). Functional genetic variation in immune modulators has the potential to affect disease etiology. We investigated associations between common variants in two key regulators, MIR146A and RNASEL
Intraspecific nuclear DNA variation in Drosophila
- Mol. Biol. Evol
, 1996
"... We have summarized and analyzed all available nuclear DNA sequence polymorphism studies for three species of Drosophila, D. melunogaster (24 loci), D. simuluns (12 loci), and D. pseudoobscuru (5 loci). Our major findings are: (1) The average nucleotide heterozygosity ranges from about 0.4 % to 2 % d ..."
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Cited by 11 (0 self)
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) The level of variation in coding DNA and the adjacent noncoding DNA is significantly correlated indicating regional effects, most notably recombination. (8) Surprisingly, the level of polymorphism at silent coding sites in D. melunoguster is positively correlated with degree of codon usage bias. (9) Three
RESEARCH Open Access Novel SNP improves differential survivability and mortality in non-small cell lung cancer patients
, 2014
"... Background: Non-small cell lung cancer (NSCLC) is a major cause of cancer-related death worldwide due to poor patient prognosis and clinical outcome. Here, we studied the genetic variations underlying NSCLC pathogenesis based on their association to patient outcome after gemcitabine therapy. Results ..."
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in the cytoplasm instead of the nucleus. This inhibits DNA replication in cancer cells and confers a protective effect in individuals with this SNP. Conclusions: The results suggest that POLA2+1747 GG/GA may be used as a prognostic biomarker of patient outcome in NSCLC pathogenesis. Background Non-small cell lung
Population history and natural selection shape patterns of genetic variation in 132 genes
- PLoS Biol
, 2004
"... Identifying regions of the human genome that have been targets of natural selection will provide important insights into human evolutionary history and may facilitate the identification of complex disease genes. Although the signature that natural selection imparts on DNA sequence variation is diffi ..."
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Cited by 56 (2 self)
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Identifying regions of the human genome that have been targets of natural selection will provide important insights into human evolutionary history and may facilitate the identification of complex disease genes. Although the signature that natural selection imparts on DNA sequence variation
Results 1 - 10
of
400
