Glucocorticoid-remediable aldosteronism
... in GRA, they have been found in rodents to have only weak mineralocorticoid activity [8]. However, it is possible that these hybrid compounds possesssignificant mineralocorticoid activity in humans. The molecular basis of GRA was discovered by applying a candidategene approachin a pedigree where aff ...
... in GRA, they have been found in rodents to have only weak mineralocorticoid activity [8]. However, it is possible that these hybrid compounds possesssignificant mineralocorticoid activity in humans. The molecular basis of GRA was discovered by applying a candidategene approachin a pedigree where aff ...
Chromosomal Microarray Analysis
... Chromosomal Microarray Analysis revealed an approximately 28.2 Mb LOSS in copy number in the distal and subtelomeric regions of the long arm of chromosome 18 suggestive of mosaicism. This deletion includes the critical region of chromosome 18q deletion syndrome (OMIM 601808). FISH analysis and parti ...
... Chromosomal Microarray Analysis revealed an approximately 28.2 Mb LOSS in copy number in the distal and subtelomeric regions of the long arm of chromosome 18 suggestive of mosaicism. This deletion includes the critical region of chromosome 18q deletion syndrome (OMIM 601808). FISH analysis and parti ...
User guide
... complementary to the typical single marker / gene analysis have recently been applied to GWAS datasets to detect the combined effect of multiple variants within a pathway or functional group. These methods include Gene Set Enrichment Analysis (GSEA), which was adapted from microarray expression d ...
... complementary to the typical single marker / gene analysis have recently been applied to GWAS datasets to detect the combined effect of multiple variants within a pathway or functional group. These methods include Gene Set Enrichment Analysis (GSEA), which was adapted from microarray expression d ...
The RNAi mechanism
... • Procedure is opposite of how discoveries are made in classical or forward genetics. • Because of DNA Sequencing many genes are known before their function is understood. • In reverse genetics, researchers engineer a change or disruption and then observe the effect to determine the function of the ...
... • Procedure is opposite of how discoveries are made in classical or forward genetics. • Because of DNA Sequencing many genes are known before their function is understood. • In reverse genetics, researchers engineer a change or disruption and then observe the effect to determine the function of the ...
Title: Genes in the Postgenomic Era Authors: Paul E. Griffiths and
... mutation. That offspring will therefore be a phenotypic mutant. The cis-trans test assumes that recombination - the association of alleles from two homologous chromosomes of a parent on a single chromosome in the offspring as a result of crossing over during meiosis - is a process that recombines w ...
... mutation. That offspring will therefore be a phenotypic mutant. The cis-trans test assumes that recombination - the association of alleles from two homologous chromosomes of a parent on a single chromosome in the offspring as a result of crossing over during meiosis - is a process that recombines w ...
THR_Paper2_CRISPR
... forceful adaptation to the rapidly evolving viruses of bacteria and archaea. The acquisition and utilization of spacer sequences constitute the two main stages of CRISPR immunity (Marraffini, Luciano A). Without the CRISPR system, when a bacteriophage injects its DNA into a microbe, the bacteriophag ...
... forceful adaptation to the rapidly evolving viruses of bacteria and archaea. The acquisition and utilization of spacer sequences constitute the two main stages of CRISPR immunity (Marraffini, Luciano A). Without the CRISPR system, when a bacteriophage injects its DNA into a microbe, the bacteriophag ...
Acquired Copy Number Alterations in Adult Acute Myeloid Leukemia
... Confirmation of CNA was performed using the independent, ultra-dense custom Roche NimbleGen CGH 12 x 135K arrays (135,000 probes per sample). Confirmation CGH array design consisted of a dense tiling of probes across putative CNA loci identified by SNP arrays (1,900 Biochemica · No. 4 · 2009 ...
... Confirmation of CNA was performed using the independent, ultra-dense custom Roche NimbleGen CGH 12 x 135K arrays (135,000 probes per sample). Confirmation CGH array design consisted of a dense tiling of probes across putative CNA loci identified by SNP arrays (1,900 Biochemica · No. 4 · 2009 ...
Linear and non-linear dependencies between copy number
... identification of regulatory mechanisms of abnormal gene expression and biological pathways of regulation. Most current approaches either depend on linear correlation or on nonparametric tests of association that are insensitive to the exact shape of the relationship. Based on knowledge of enzyme ki ...
... identification of regulatory mechanisms of abnormal gene expression and biological pathways of regulation. Most current approaches either depend on linear correlation or on nonparametric tests of association that are insensitive to the exact shape of the relationship. Based on knowledge of enzyme ki ...
Facts and Observations in Relation to the X
... 1) SNPs (single nucleotide polymorphisms) which are changes / substitutions of 4 nucleotide bases – Adenine, Cytosine, Guanine and Thymine (ACGT). These are changes from the ancestral form (e.g., also found in chips and gorillas) to a derived form such as an original C which becomes a G. Some of th ...
... 1) SNPs (single nucleotide polymorphisms) which are changes / substitutions of 4 nucleotide bases – Adenine, Cytosine, Guanine and Thymine (ACGT). These are changes from the ancestral form (e.g., also found in chips and gorillas) to a derived form such as an original C which becomes a G. Some of th ...
Slides
... DNA •Need to know at least the beginning and end of DNA sequence •These flanking regions have to be unique to strand interested in amplifying •Region of interest can be present in as little as one copy •Enough DNA in 0.1 microliter of human saliva to use PCR ...
... DNA •Need to know at least the beginning and end of DNA sequence •These flanking regions have to be unique to strand interested in amplifying •Region of interest can be present in as little as one copy •Enough DNA in 0.1 microliter of human saliva to use PCR ...
Gabriela Guia Dwarfism
... transition at nucleotide1138 and a G-to-C transversion at the same nucleotide, both resulting in G380R amino acid substitutions, cause over 99% of cases of achondroplasia. ...
... transition at nucleotide1138 and a G-to-C transversion at the same nucleotide, both resulting in G380R amino acid substitutions, cause over 99% of cases of achondroplasia. ...
Construction and genetic characterization of temperature-sensitive mutant alleles of the yeast actin gene.
... the gene. Such integration results in a duplication of the gene, one copy being wild type and the other mutant. Therefore, recessive mutations would not be detected Until the plasmid vector is excised in such a way as to leave the mutation on the chromosome. One must select integration (i.e., Ura+ t ...
... the gene. Such integration results in a duplication of the gene, one copy being wild type and the other mutant. Therefore, recessive mutations would not be detected Until the plasmid vector is excised in such a way as to leave the mutation on the chromosome. One must select integration (i.e., Ura+ t ...
linkage-recomb2
... will be inherited together as crossing over is more likely to separate them. REMEMBER THAT: ...
... will be inherited together as crossing over is more likely to separate them. REMEMBER THAT: ...
Molecular Evolution of Two Linked Genes, Est-6 and Sod, in
... Supporting information online, Text S1. Nucleotide polymorphism There was no noticeable difference in the ratio of divergence to polymorphism K/ for the noncoding regions of the lb genes, but in the coding regions the synonymous K/ ratio was 2.0 – 2.7 times higher for lbl than for lbe (Tables 1 an ...
... Supporting information online, Text S1. Nucleotide polymorphism There was no noticeable difference in the ratio of divergence to polymorphism K/ for the noncoding regions of the lb genes, but in the coding regions the synonymous K/ ratio was 2.0 – 2.7 times higher for lbl than for lbe (Tables 1 an ...
File formats for NGS data - Bioinformatics Training Materials
... Fasta and FastQ (unaligned sequences) SAM/BAM (aligned sequences) Summarized genomic features ○ BED (genomic intervals) ○ GFF/GTF (gene annotation) ○ Wiggle files, BEDgraphs, BigWigs (genomic scores) ...
... Fasta and FastQ (unaligned sequences) SAM/BAM (aligned sequences) Summarized genomic features ○ BED (genomic intervals) ○ GFF/GTF (gene annotation) ○ Wiggle files, BEDgraphs, BigWigs (genomic scores) ...
The Evolution of tRNA-Leu Genes in Animal
... The L and L2 genes on the mitochondrial genome of any one species must, by definition, differ by at least one point substitution at the third anticodon (first codon) position. In most cases, the genes differ at several other sites, which suggests that the genes have evolved independently for some ti ...
... The L and L2 genes on the mitochondrial genome of any one species must, by definition, differ by at least one point substitution at the third anticodon (first codon) position. In most cases, the genes differ at several other sites, which suggests that the genes have evolved independently for some ti ...
The Complete Sequence of 340 kb of DNA around the
... A 2.3-centimorgan (cM) segment of rice chromosome 11 consisting of 340 kb of DNA sequence around the alcohol dehydrogenase Adh1 and Adh2 loci was completely sequenced, revealing the presence of 33 putative genes, including several apparently involved in disease resistance. Fourteen of the genes were ...
... A 2.3-centimorgan (cM) segment of rice chromosome 11 consisting of 340 kb of DNA sequence around the alcohol dehydrogenase Adh1 and Adh2 loci was completely sequenced, revealing the presence of 33 putative genes, including several apparently involved in disease resistance. Fourteen of the genes were ...
Recombination - Transformation
... The suppression of homologous recombination started outside of the SRY (Sex Reversal of Y) gene and spread to other regions in a rather spontaneous fashion, leading to the loss of genes and chromatin. It has been speculated that the cause of suppression is inversion on the Y-chromosome. When the hom ...
... The suppression of homologous recombination started outside of the SRY (Sex Reversal of Y) gene and spread to other regions in a rather spontaneous fashion, leading to the loss of genes and chromatin. It has been speculated that the cause of suppression is inversion on the Y-chromosome. When the hom ...
PowerPoint-presentatie - the biopsychology research group
... processes underlying disease vulnerability, variable gene expression, has been estimated at 18% (1). The involvement of CNVs in ADHD etiology has not been investigated. Within the International Multisite ADHD Genetics (IMAGE) study, sponsored by the Genetic Association Information Network (GAIN), a ...
... processes underlying disease vulnerability, variable gene expression, has been estimated at 18% (1). The involvement of CNVs in ADHD etiology has not been investigated. Within the International Multisite ADHD Genetics (IMAGE) study, sponsored by the Genetic Association Information Network (GAIN), a ...
Identify differential APA usage from RNA-seq
... The other information needed to build a RoarDataset object are 3’UTRs coordinates (with canonical and alternative polyadenylation sites) for the genes that one wants to analyze - these could be given using a gtf file or a GRanges object. The gtf file should have an attribute (metadata column for the ...
... The other information needed to build a RoarDataset object are 3’UTRs coordinates (with canonical and alternative polyadenylation sites) for the genes that one wants to analyze - these could be given using a gtf file or a GRanges object. The gtf file should have an attribute (metadata column for the ...
Slides on chromosomal changes
... It is possible that crossing over between repetitive elements (e.g. transposable elements) generates the various rearrangements Crossing over between elements on a single chromosome can result in a deletion or inversion. If two nonhomologous chromosome each have the same repeated Element, crossing o ...
... It is possible that crossing over between repetitive elements (e.g. transposable elements) generates the various rearrangements Crossing over between elements on a single chromosome can result in a deletion or inversion. If two nonhomologous chromosome each have the same repeated Element, crossing o ...
ppt
... When lactose is present, E. coli produce three enzymes involved in lactose metabolism. Lactose is broken into glucose and galactose, and galactose is modified into glucose, too. Glucose is then metabolized in aerobic respiration pathways to harvest energy (ATP). When lactose is absent, E. coli does ...
... When lactose is present, E. coli produce three enzymes involved in lactose metabolism. Lactose is broken into glucose and galactose, and galactose is modified into glucose, too. Glucose is then metabolized in aerobic respiration pathways to harvest energy (ATP). When lactose is absent, E. coli does ...
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.