MAGMA manual (version 1.05)
... header) or index, so for example adding ‘use=rsid,6’ will look for SNP IDs in the column named ‘rsid’, and for p-values in the sixth column. The N and ncol modifiers are used to specify the sample size. The N modifier is used to specify the sample size directly (the total sample size, also when usin ...
... header) or index, so for example adding ‘use=rsid,6’ will look for SNP IDs in the column named ‘rsid’, and for p-values in the sixth column. The N and ncol modifiers are used to specify the sample size. The N modifier is used to specify the sample size directly (the total sample size, also when usin ...
Author`s personal copy - Real Jardín Botánico
... The chromosomal location of the region encoding the 5S rRNA is variable in both prokaryotic and eukaryotic organisms. In higher plants and animals, the 5S rRNA genes often form separate clusters. The 5S rDNA array may be found at more than one locus either on the same chromosome as the 45S repeats o ...
... The chromosomal location of the region encoding the 5S rRNA is variable in both prokaryotic and eukaryotic organisms. In higher plants and animals, the 5S rRNA genes often form separate clusters. The 5S rDNA array may be found at more than one locus either on the same chromosome as the 45S repeats o ...
Biomarker for Spinal Muscular Atrophy: Expression
... fully understood. The amount of SMN2 full length transcript, and thus of functional protein, has a potentially strong influence on the disease phenotype, which depends upon the copy number and also the expression levels of the SMN2 gene in particular in disease tissue ([8]; [9], [10]. The clinical p ...
... fully understood. The amount of SMN2 full length transcript, and thus of functional protein, has a potentially strong influence on the disease phenotype, which depends upon the copy number and also the expression levels of the SMN2 gene in particular in disease tissue ([8]; [9], [10]. The clinical p ...
Part 4 Student Handout - URMC
... 12. Once the gel has completely hardened, remove the wedge-shaped dams by lifting them vertically out of their slots. 13. Store the dams in the spaces at the ends of the gel box. Match the colors on the gel box with the colors on the dams. ...
... 12. Once the gel has completely hardened, remove the wedge-shaped dams by lifting them vertically out of their slots. 13. Store the dams in the spaces at the ends of the gel box. Match the colors on the gel box with the colors on the dams. ...
Title: FISH analysis comparing the gene composition of the Onager
... The onager [E. hemionus onager, EHO] and the domestic horse [E. caballus, ECA] have evolved over the course of 3.7 million years. The closely related EHO and ECA have diploid chromosome numbers of 2n=56 and 2n=64, respectively. Comparative gene mapping was done by FISH [fluorescent in-situ hybridiza ...
... The onager [E. hemionus onager, EHO] and the domestic horse [E. caballus, ECA] have evolved over the course of 3.7 million years. The closely related EHO and ECA have diploid chromosome numbers of 2n=56 and 2n=64, respectively. Comparative gene mapping was done by FISH [fluorescent in-situ hybridiza ...
Evolution of Closely Linked Gene Pairs in
... closely linked h2h pairs is that once created by chance, it becomes difficult to separate the pair as insertion of intergenic DNA, such as a repetitive element, would disturb expression of both genes. H2h gene pairs would thus slowly accumulate during evolution. This explanation is supported by the ...
... closely linked h2h pairs is that once created by chance, it becomes difficult to separate the pair as insertion of intergenic DNA, such as a repetitive element, would disturb expression of both genes. H2h gene pairs would thus slowly accumulate during evolution. This explanation is supported by the ...
Supplementary Data - Word file
... As described in the main text, it has long been proposed that genomes evolve according to random breakage model which predicts that distances between breakpoints should follow an exponential distribution of the form f(x) = 1/L e-x/L, where L is the average size of all unbroken segments14,15. To dete ...
... As described in the main text, it has long been proposed that genomes evolve according to random breakage model which predicts that distances between breakpoints should follow an exponential distribution of the form f(x) = 1/L e-x/L, where L is the average size of all unbroken segments14,15. To dete ...
Reconstruction of a Functional Human Gene Network, with an
... the data sources from which the true positives were derived and their degree of overlap. Numbers in parentheses indicate the number of interactions that are provided by each of the data sets. b, Potential gene-gene interactions derived from GO, microarray coexpression data, and human and orthologous ...
... the data sources from which the true positives were derived and their degree of overlap. Numbers in parentheses indicate the number of interactions that are provided by each of the data sets. b, Potential gene-gene interactions derived from GO, microarray coexpression data, and human and orthologous ...
TEXT Definition Chromosomal alterations are variations from the
... chromosome regions may be separated from one another, or may be adjacent. Large duplications of chromosomal material lead to gene imbalances that may be lethal to a zygote or even, in the case of plants, to the pollen or ovules that carry hem. Duplications in which the duplicated copies lie at diffe ...
... chromosome regions may be separated from one another, or may be adjacent. Large duplications of chromosomal material lead to gene imbalances that may be lethal to a zygote or even, in the case of plants, to the pollen or ovules that carry hem. Duplications in which the duplicated copies lie at diffe ...
Genomic overview of serine proteases
... previously reported, phylogenetic trees appear to be governed by surface-exposed residues that control substrate and modulatory ligand recognition [17]. The tree presented here agrees with a previous attempt to segregate proteases into functional groups based on phylogenetic analysis [18]. The tight ...
... previously reported, phylogenetic trees appear to be governed by surface-exposed residues that control substrate and modulatory ligand recognition [17]. The tree presented here agrees with a previous attempt to segregate proteases into functional groups based on phylogenetic analysis [18]. The tight ...
Comparative Analysis of Structural Diversity and
... a mitochondrial targeting presequence, compared with genes without a presequence? Is it common for a transferred gene to gain a presequence from another gene for a mitochondrial protein, or from a gene for a nonmitochondrial protein? How common are introns in different locations of the genes (preseq ...
... a mitochondrial targeting presequence, compared with genes without a presequence? Is it common for a transferred gene to gain a presequence from another gene for a mitochondrial protein, or from a gene for a nonmitochondrial protein? How common are introns in different locations of the genes (preseq ...
Word - NIEHS SNPs Program
... will see a section called Color-Coding for LD Plot. To simplify the view change the Min value from 0.1 to 0.5. Let’s try to display LD again and when the ‘Select Display Type’ window emerges, click the ‘open graphical display of linkage disequilibrium.’ What we have done is to get rid of all the low ...
... will see a section called Color-Coding for LD Plot. To simplify the view change the Min value from 0.1 to 0.5. Let’s try to display LD again and when the ‘Select Display Type’ window emerges, click the ‘open graphical display of linkage disequilibrium.’ What we have done is to get rid of all the low ...
Analysis of 16S ribosomal RNA gene segments for the diagnosis of
... most or the entire gene can be sequenced. However, DNA sequencing is impractical in medical diagnostics where speed is often of the essence. Species-specific sequences can be identified very rapidly in assays that combine nucleic acid amplification and a sequencespecific probe of the amplified produ ...
... most or the entire gene can be sequenced. However, DNA sequencing is impractical in medical diagnostics where speed is often of the essence. Species-specific sequences can be identified very rapidly in assays that combine nucleic acid amplification and a sequencespecific probe of the amplified produ ...
Mapping of the Recessive White Locus and
... 1990). These 3 alleles all correspond to a phenotype of all-white plumage, whereas the wild type (C+) has strong pigmentation. A previous study using 2-dimensional gel electrophoresis suggested that the C locus is the structural locus for tyrosinase in the fowl (Oetting et al., 1985). The tyrosinase ...
... 1990). These 3 alleles all correspond to a phenotype of all-white plumage, whereas the wild type (C+) has strong pigmentation. A previous study using 2-dimensional gel electrophoresis suggested that the C locus is the structural locus for tyrosinase in the fowl (Oetting et al., 1985). The tyrosinase ...
multicopy gene family evolution on primate y chromosomes
... Contrary to previous theories, the Y chromosome is an important determinant of male phenotype [15–17]. The Y chromosome has been found to be associated with male fertility in humans [18] and even less obvious traits like lifespan [19] and locomotive activity [20] in Drosophila species. Therefore, an ...
... Contrary to previous theories, the Y chromosome is an important determinant of male phenotype [15–17]. The Y chromosome has been found to be associated with male fertility in humans [18] and even less obvious traits like lifespan [19] and locomotive activity [20] in Drosophila species. Therefore, an ...
Carbapenemase and virulence factors of
... However, Escherichia coli represented 73% of the OXA-48-producing Enterobacteriaceae collected in 2012 at this hospital. During the faecal carriage study performed in non-hospitalized patients, E. coli was the only species producing OXA-48. The blaOXA-48 gene was mainly found within Tn1999.2-type tr ...
... However, Escherichia coli represented 73% of the OXA-48-producing Enterobacteriaceae collected in 2012 at this hospital. During the faecal carriage study performed in non-hospitalized patients, E. coli was the only species producing OXA-48. The blaOXA-48 gene was mainly found within Tn1999.2-type tr ...
Widespread expression of the bovine Agouti gene results from at
... liver and kidney mainly express a 2 kb mRNA isoform. A 1.5 kb mRNA isoform is predominant in heart whereas the 2 kb transcript seems to be a minor component. Although lower, the 1.5 kb isoform is also detectable in spleen and lung (Fig. 2). Characterization of the 5¢ UTR and promoter sequences Since ...
... liver and kidney mainly express a 2 kb mRNA isoform. A 1.5 kb mRNA isoform is predominant in heart whereas the 2 kb transcript seems to be a minor component. Although lower, the 1.5 kb isoform is also detectable in spleen and lung (Fig. 2). Characterization of the 5¢ UTR and promoter sequences Since ...
ACMG Standards and Guidelines for constitutional cytogenomic
... necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific pr ...
... necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific pr ...
View PDF - OMICS International
... Page 2 of 4 included DMD gene, with the consequent interruption of its sequence, and that the active X chromosome was involved in the translocation. The girl was addressed to our Service to perform the molecular analysis of the dystrophin gene and for the taking care. At the first admission, at age ...
... Page 2 of 4 included DMD gene, with the consequent interruption of its sequence, and that the active X chromosome was involved in the translocation. The girl was addressed to our Service to perform the molecular analysis of the dystrophin gene and for the taking care. At the first admission, at age ...
Environmental Microbiology
... the binding of regulatory proteins at specific sites, and thus alter gene expression (Nou et al., 1995; van der Woude et al., 1996). A paradigm for regulation via differential methylation is presented in Fig. 3. Examples of genes controlled via differential methylation are presented in Table 1. Unpr ...
... the binding of regulatory proteins at specific sites, and thus alter gene expression (Nou et al., 1995; van der Woude et al., 1996). A paradigm for regulation via differential methylation is presented in Fig. 3. Examples of genes controlled via differential methylation are presented in Table 1. Unpr ...
Document
... • Block boundaries sensitive to marker density • Genotype savings may not be great (recombination) ...
... • Block boundaries sensitive to marker density • Genotype savings may not be great (recombination) ...
Article 1 Title: The pseudoautosomal regions of the U/V sex
... recombining region is usually not lost completely and it is thought that most species retain a PAR because homologous recombination in this region plays a critical role in chromosomal pairing and segregation during meiosis [4,5]. Moreover, there are situations where sexually antagonistic forces may ...
... recombining region is usually not lost completely and it is thought that most species retain a PAR because homologous recombination in this region plays a critical role in chromosomal pairing and segregation during meiosis [4,5]. Moreover, there are situations where sexually antagonistic forces may ...
Management Perspectives Polled or Scurred: Do You Know the
... Testing for polled should be considered There are many reasons mistakes could happen in classifying a calf as polled or horned. The scur gene, human error, poor judgment, and a varying degree of genetic influence on horn growth strongly suggest testing for the polled gene should be a mandatory when ...
... Testing for polled should be considered There are many reasons mistakes could happen in classifying a calf as polled or horned. The scur gene, human error, poor judgment, and a varying degree of genetic influence on horn growth strongly suggest testing for the polled gene should be a mandatory when ...
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.