Ensembl variation resources Open Access Database
... aligned reads. (These values are reduced if the sequencing coverage is less than approximately 0.1×). Read pair information is used to filter out wrongly mapped reads, and variants with more than two alleles for one strain/ individual are discarded. For individuals or strains with a read coverage of ...
... aligned reads. (These values are reduced if the sequencing coverage is less than approximately 0.1×). Read pair information is used to filter out wrongly mapped reads, and variants with more than two alleles for one strain/ individual are discarded. For individuals or strains with a read coverage of ...
PERSPECTIVES IN HUMAN GENETICS Mendelian Inheritance in
... each AV consists of the title of the trait (phenotype) determined by the mutation, the gene symbol and the shorthand description of the mutation,10–12 text providing a varying amount of information on the family(ies) or population(s) studied, the details of the specific DNA change, and peculiarities ...
... each AV consists of the title of the trait (phenotype) determined by the mutation, the gene symbol and the shorthand description of the mutation,10–12 text providing a varying amount of information on the family(ies) or population(s) studied, the details of the specific DNA change, and peculiarities ...
Rhizopus Raw-Starch-Degrading Glucoamylase: Its
... glucoamylase gene was not expressed in yeast cells, we have cloned a glucoamylase gene from a CDNAlibrary prepared from Rhizopus mRNA.Sequence analysis of both glucoamylase genes revealed that the genomic gene contained 4 intervening sequences and the CDNAgene lacked 145 nucleotides corresponding to ...
... glucoamylase gene was not expressed in yeast cells, we have cloned a glucoamylase gene from a CDNAlibrary prepared from Rhizopus mRNA.Sequence analysis of both glucoamylase genes revealed that the genomic gene contained 4 intervening sequences and the CDNAgene lacked 145 nucleotides corresponding to ...
Gene Ontology (GO) Tutorial
... Trying some GO tools that extend the use of the GO from an annotation resource to a research/analysis tool. So far, you have explored the use of the GO as a common resource for annotation of gene products for different organisms. It is also possible to use the GO as a research analysis tool by exami ...
... Trying some GO tools that extend the use of the GO from an annotation resource to a research/analysis tool. So far, you have explored the use of the GO as a common resource for annotation of gene products for different organisms. It is also possible to use the GO as a research analysis tool by exami ...
Recall Questions
... substantial number of stillbirths, miscarriages, and fertility problems on the husband’s side of the family, they see a genetic counselor. A chromosome analysis reveals that, whereas the woman has a normal karyotype, the man possesses only 45 chromosomes and is a carrier for a Robertsonian transloca ...
... substantial number of stillbirths, miscarriages, and fertility problems on the husband’s side of the family, they see a genetic counselor. A chromosome analysis reveals that, whereas the woman has a normal karyotype, the man possesses only 45 chromosomes and is a carrier for a Robertsonian transloca ...
Conjugative plasmids: vessels of the communal gene pool
... The ability of genomic information to flow successfully between prokaryotes is not solely because of their propensity to coexist within highly heterogenic multi-species communities or the separation of their individual genomes by lipid membranes. A highly contributing factor to the extent of HGT is ...
... The ability of genomic information to flow successfully between prokaryotes is not solely because of their propensity to coexist within highly heterogenic multi-species communities or the separation of their individual genomes by lipid membranes. A highly contributing factor to the extent of HGT is ...
Molecular Evolution of Overlapping Genes
... gene in an overlapping pair, thereby ignoring the unique evolutionary constraints on overlapping coding regions. ...
... gene in an overlapping pair, thereby ignoring the unique evolutionary constraints on overlapping coding regions. ...
Conserved syntenic clusters of protein coding genes are missing in
... Results: Using comparative genomics based on extensive searches of 60 avian genomes, we have found that birds lack approximately 274 protein coding genes that are present in the genomes of most vertebrate lineages and are for the most part organized in conserved syntenic clusters in non-avian saurop ...
... Results: Using comparative genomics based on extensive searches of 60 avian genomes, we have found that birds lack approximately 274 protein coding genes that are present in the genomes of most vertebrate lineages and are for the most part organized in conserved syntenic clusters in non-avian saurop ...
Conserved syntenic clusters of protein coding genes are missing in birds
... many conserved genes that could not be found in the previous assembly (for example, [20]), and yielded significant BLAT-alignments for approximately 96% of genes from a positive control search set consisting of randomly selected lizard gene models with known orthologs in birds). Lastly, this subset ...
... many conserved genes that could not be found in the previous assembly (for example, [20]), and yielded significant BLAT-alignments for approximately 96% of genes from a positive control search set consisting of randomly selected lizard gene models with known orthologs in birds). Lastly, this subset ...
Leukaemia Section MLL amplification in leukemia Atlas of Genetics and Cytogenetics
... Genes involved and proteins Note Generally MLL amplification is not associated with rearrangement of this gene. RNA overexpression is the result of the increase copy number of MLL (gain of function). Moreover, the amplified region is not limited to the MLL/11q23.3 gene locus, and other genes in the ...
... Genes involved and proteins Note Generally MLL amplification is not associated with rearrangement of this gene. RNA overexpression is the result of the increase copy number of MLL (gain of function). Moreover, the amplified region is not limited to the MLL/11q23.3 gene locus, and other genes in the ...
Genome-wide analysis by SNP Array
... of karyotyping or FISH remains insufficient for the diagnosis of the micro-rearrangements involved in ID and CA. Low karyotyping resolution (5-10 Mb) and the targeted analysis of FISH represent a significant restriction for ID and CA diagnosis. However, DNA microarrays have proved their utility in t ...
... of karyotyping or FISH remains insufficient for the diagnosis of the micro-rearrangements involved in ID and CA. Low karyotyping resolution (5-10 Mb) and the targeted analysis of FISH represent a significant restriction for ID and CA diagnosis. However, DNA microarrays have proved their utility in t ...
A genome-wide association scan in pig identifies novel regions
... pig QTLdb on various SSC (9, 13, 16, 18, and X). Such linkage information can be used only for within-family selection, and the linkage QTL intervals are generally wide and therefore are not suitable for candidate gene searches. However, association mapping (also known as linkage disequilibrium mapp ...
... pig QTLdb on various SSC (9, 13, 16, 18, and X). Such linkage information can be used only for within-family selection, and the linkage QTL intervals are generally wide and therefore are not suitable for candidate gene searches. However, association mapping (also known as linkage disequilibrium mapp ...
Sex-specific Trans-regulatory Variation on the Drosophila melanogaster X Chromosome
... The inbred lines studied here are all fully sequenced [30]. This allowed us to conduct a genome-wide association study on gene expression independently for each of our selected genes. Since we were exclusively interested in trans-regulation (and since cis-regulation of these lines has previously bee ...
... The inbred lines studied here are all fully sequenced [30]. This allowed us to conduct a genome-wide association study on gene expression independently for each of our selected genes. Since we were exclusively interested in trans-regulation (and since cis-regulation of these lines has previously bee ...
1q21 microdeletions
... molecular or DNA technology, in particular a technique using microarrays (array-CGH). This shows gains and losses of tiny amounts of DNA throughout the genome (also called duplications and deletions) and can show whether particular genes are present or not. A deletion so small that it can only be id ...
... molecular or DNA technology, in particular a technique using microarrays (array-CGH). This shows gains and losses of tiny amounts of DNA throughout the genome (also called duplications and deletions) and can show whether particular genes are present or not. A deletion so small that it can only be id ...
1q21 microdeletions
... and tongue thrusting. While three babies were breastfed, in one instance using techniques for babies with low muscle tone, others needed tube feeding and treatment for reflux, including a low-allergen milk formula. Two babies’ feeding difficulties were so severe that they were fed for a time by gast ...
... and tongue thrusting. While three babies were breastfed, in one instance using techniques for babies with low muscle tone, others needed tube feeding and treatment for reflux, including a low-allergen milk formula. Two babies’ feeding difficulties were so severe that they were fed for a time by gast ...
The genomic landscape of meiotic crossovers and gene
... (GCs) is essential for understanding many aspects of population genetics and evolution, from haplotype structure and long-distance genetic linkage to the generation of new allelic variants of genes. To this end, we resequenced the four products of 13 meiotic tetrads along with 10 doubled haploids de ...
... (GCs) is essential for understanding many aspects of population genetics and evolution, from haplotype structure and long-distance genetic linkage to the generation of new allelic variants of genes. To this end, we resequenced the four products of 13 meiotic tetrads along with 10 doubled haploids de ...
pdf
... removal of up to 60 Tg of nitrogen annually, roughly an eighth of the global fixed nitrogen sink. Although denitrification has long been believed to be the major process responsible for fixed nitrogen loss from the oceans, recent studies show that anaerobic ammonium oxidation (anammox) is potentiall ...
... removal of up to 60 Tg of nitrogen annually, roughly an eighth of the global fixed nitrogen sink. Although denitrification has long been believed to be the major process responsible for fixed nitrogen loss from the oceans, recent studies show that anaerobic ammonium oxidation (anammox) is potentiall ...
The tightly regulated promoter of the xanA gene of
... into the sequences corresponding to the first exon at position +88. These sequences are present at 21 and 40 different sites in A. nidulans genome respectively. The xanA gene and the psxA sequences show a 97% identity over a length of 739 bp. A search in the repeated sequences database Repbase Updat ...
... into the sequences corresponding to the first exon at position +88. These sequences are present at 21 and 40 different sites in A. nidulans genome respectively. The xanA gene and the psxA sequences show a 97% identity over a length of 739 bp. A search in the repeated sequences database Repbase Updat ...
1 Article: Investigation Evidence for Stabilizing Selection on Codon
... examined codon bias in 2,798 protein coding loci on the third chromosome of Drosophila pseudoobscura using whole genome sequences of 47 individuals, representing five common third chromosome gene arrangements. Fine-scale recombination maps were constructed using over 1 million segregating sites. As ...
... examined codon bias in 2,798 protein coding loci on the third chromosome of Drosophila pseudoobscura using whole genome sequences of 47 individuals, representing five common third chromosome gene arrangements. Fine-scale recombination maps were constructed using over 1 million segregating sites. As ...
Supporting Information Parfenov et al. 10.1073/pnas.1416074111
... HPV Integration Breakpoint Enrichment Simulation. We identified the breakpoints of HPV integration sites in the HPV genome, and we evaluated whether these integration sites were distributed nonrandomly in genes. We used only samples with HPV16 in this simulation. First, we took 93 HPV16 integration ...
... HPV Integration Breakpoint Enrichment Simulation. We identified the breakpoints of HPV integration sites in the HPV genome, and we evaluated whether these integration sites were distributed nonrandomly in genes. We used only samples with HPV16 in this simulation. First, we took 93 HPV16 integration ...
Selecting an Ontology for Biomedical Text Mining He Tan, Patrick Lambrix Abstract
... as Organism, Cell and Tissue in the case of biology; and domain ontologies, e.g. GO (Ashburner et al., 2000), contain classes that comprehensively describe a certain domain of interest. For example, for natural language processing tasks such as entity recognition, a topdomain ontology may be suffici ...
... as Organism, Cell and Tissue in the case of biology; and domain ontologies, e.g. GO (Ashburner et al., 2000), contain classes that comprehensively describe a certain domain of interest. For example, for natural language processing tasks such as entity recognition, a topdomain ontology may be suffici ...
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.