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Package `LDheatmap`
Package `LDheatmap`

... A character string to specify whether the provided map locations are in physical or genetic distances. If distances="physical" (default), the text describing the total length of the region will be “Physical Length:XXkb” where XX is the length of the region in kilobases. If distances="genetic", the t ...
Efficiency of gene silencing in Arabidopsis
Efficiency of gene silencing in Arabidopsis

... and homologous inverted repeat (hIR) vectors. hIR constructs carry self-complementary intron-spliced fragments of the target gene whereas transitive vectors have the target sequence fragment adjacent to an intron-spliced, inverted repeat of heterologous origin. Both transitive and hIR constructs fac ...
A-level Biology Previous essay titles and mark schemes
A-level Biology Previous essay titles and mark schemes

... differences in DNA – comparing base sequences G. Genes, alleles and proteins produced P. Comparing protein sequences AS. Selection – selective breeding, artificial selection FG. Founder effect/genetic bottlenecks Sp. Species diversity and index of ...
Obtaining genetic testing in pediatric epilepsy
Obtaining genetic testing in pediatric epilepsy

... sequence a list of genes known to be associated with a specific phenotype (e.g., X-linked intellectual disability, infantile onset epilepsy, etc.). As research increases our understanding, new genes are often added to the list. WES offers a broad evaluation for genetic variation by sequencing most o ...
Failures in Mitochondrial tRNA and tRNA Metabolism
Failures in Mitochondrial tRNA and tRNA Metabolism

... ardiovascular disease is the leading cause of death in America and the world. In particular, hypertension affects ⬇1 billion individuals worldwide and 130 million in China.1 The etiology of cardiovascular disease is not well understood because of the multifactorial causes. Cardiovascular disease can ...
Wnt8 Is Required for Growth-Zone Establishment and Development
Wnt8 Is Required for Growth-Zone Establishment and Development

... increase in the distance between the L3 and L4 limb buds along the anterior-posterior (A-P) axis, and although the opisthosoma was narrower compared to control embryos of the same stage, segments were still evident (Figures 2A, 2B, 2E, and 2F and Figures S3A and S3C). In class II phenotypes, althoug ...
Nucleic acid hybridisation and polymerase chain reaction
Nucleic acid hybridisation and polymerase chain reaction

... should b e processed as quickly as possible and at low temperature. RNase inhibitors such as vanadyl ribocomplexes and human placental ribonuclease inhibitor (RNAsin) can help to avoid degradation (for greater detail, see 64). In some instances, traditional extraction procedures have been successful ...
Mutations affecting craniofacial development in zebrafish
Mutations affecting craniofacial development in zebrafish

... group. The 48 isolated mutations fall into 34 complementation groups. Table 1 presents a brief summary, including phenotypic aspects not related to craniofacial development. Group I: Mutations affecting the layout of the pharyngeal skeleton Alcian blue staining produced evidence of the absence or di ...
Contribution of IKBKE and IFIH1 gene variants to SLE susceptibility
Contribution of IKBKE and IFIH1 gene variants to SLE susceptibility

Comparative analysis of the Geobacillus hemicellulose utilization locus reveals a highly
Comparative analysis of the Geobacillus hemicellulose utilization locus reveals a highly

Antibiotic resistance genes and identification of staphylococci
Antibiotic resistance genes and identification of staphylococci

... streaked on selective plates containing Mannitol Salt Agar (MSA, Oxoid) supplemented with one of the following antibiotics: erythromycin (final concentration 16 mg ml1), gentamycin (32 mg ml1), oxacillin (4 mg ml1), penicillin G (0.5 mg ml1), tetracycline (32 mg ml1), vancomycin (4 mg ml1), acc ...
SOP Criteria for Variant Classification
SOP Criteria for Variant Classification

... both invoked for a variant in a patient; if all evidences from the literature were considered and counted and related criteria are invoked, then PP5 or BP6 cannot be invoked again as an additional line of evidence.  Criterial can be “upgraded” or “downgraded” based on the strength of the evidence u ...
HapTree-X: An integrative Bayesian framework for haplotype
HapTree-X: An integrative Bayesian framework for haplotype

... In genomic read data, all r ∈ R are equally likely to be sampled from the maternal or paternal chromosomes. In RNA-seq data however, this may not always be the case. In this paper, we define the differential haplotypic expression (DHE) to represent the underlying expression bias between the maternal ...
The CNS midline cells and spitz class genes are required for proper
The CNS midline cells and spitz class genes are required for proper

... Molecular genetic characterization of the spitz class genes has control the cellular interactions that ensure only a single cell in the provided useful information on the role of each gene in the group gives rise to a NB (Campos-Ortega, 1993). Although the establishment of NB and VE fate. The sim ge ...
Structures in the lac
Structures in the lac

... 1) Repressor site: broken, doesn't allow the production of the lac repressor 2) Operator: broken, won't allow binding of the repressor 3) Promotor: broken, won't allow binding of the RNA polymerase 4) LacY: broken, doesn't produce the B-galactoside permease to transport lactose into the cell 5) LacZ ...
Prediction and Validation of Gene-Disease Associations
Prediction and Validation of Gene-Disease Associations

... phenotypes that share a higher than expected number of orthologous genes. In this way, a number of new, and often surprising, model systems were found for human diseases. For instance, the human neural crest related developmental disorder Waardenburg syndrome shares gene modules with gravitropism (t ...
Schizophrenia genetics: emerging themes for a complex disorder
Schizophrenia genetics: emerging themes for a complex disorder

... consortia detected incrementally more risk loci such that by the end of 2013 around 30 loci had been reported at genome-wide significance, albeit not always in samples that were well enough powered to give confidence in the findings. The largest single study prior to 2014 undertook a meta-analysis of n ...
resolving the paradox of sex and recombination
resolving the paradox of sex and recombination

... occur near the ends of a chromosome28. These data indicate that there are selective constraints on the number and distribution of chiasmata along chromosomes that might explain why the number of recombination events per chromosome is so remarkably uniform across a broad range of species. Whereas sel ...
Replication timing as an epigenetic mark
Replication timing as an epigenetic mark

... Developmental regulation is a key hallmark of an epigenetic mark.7 While the aforementioned observations make a strong case for the mitotic inheritance of replication timing profiles in a given cell type, evidence for developmental regulation has been primarily anecdotal.12 As described, the first a ...
13 Patterns of Inheritance Concept Outline 13.1 Mendel solved the mystery of heredity.
13 Patterns of Inheritance Concept Outline 13.1 Mendel solved the mystery of heredity.

... able. Some of these offspring resembled plants of the hyparents disappeared in one generation only to reappear brid generation (their parents), but a few resembled the in the next. original strains (their grandparents). In these deceptively simple results were the makings of a scientific revolution. ...
stem cell
stem cell

... – These small fish (2 - 4 cm long) are easy to breed in the laboratory in large numbers. – Transparent embryos develop outside the mother’s body. – Although generation time is two to four months, the early stages of development proceed quickly. • By 24 hours after fertilization, most tissues and ear ...
ABO Blood Group System
ABO Blood Group System

... The ABO Blood Group System was the first to be identified and is the most significant for transfusion practice It is the ONLY system that the reciprocal antibodies are consistently and predictably present in the sera of people who have had no exposure to human red cells ...
Comparison of DNA Sequences with Protein Sequences
Comparison of DNA Sequences with Protein Sequences

... We call the DNA sequence given as input the determined DNA sequence, to emphasize that it is determined by some experimental procedure and is subject to uncertainty. Both of our approaches to DNA–protein alignment determine, at least implicitly, a hypothesized coding region, or HCR, and align the co ...
L20PositiveNegativeBalancing
L20PositiveNegativeBalancing

... Alignment of orthologous regulatory regions of 4 mammals. A transcription factor-binding site with low divergence is marked by blue. If the alignment includes only a few sequences, we can only detect substantial segments with reduced divergence rates (never call them mutation rates!) - for example, ...
Gene Finding by Computational Analysis
Gene Finding by Computational Analysis

... • In Eukaryotes, DNA locates within the nucleus ...
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Site-specific recombinase technology



Nearly every human gene has a counterpart in the mouse (regardless of the fact that a minor set of orthologues had to follow species specific selection routes). This made the mouse the major model for elucidating the ways in which our genetic material encodes information. In the late 1980s gene targeting in murine embryonic stem (ES-)cells enabled the transmission of mutations into the mouse germ line and emerged as a novel option to study the genetic basis of regulatory networks as they exist in the genome. Still, classical gene targeting proved to be limited in several ways as gene functions became irreversibly destroyed by the marker gene that had to be introduced for selecting recombinant ES cells. These early steps led to animals in which the mutation was present in all cells of the body from the beginning leading to complex phenotypes and/or early lethality. There was a clear need for methods to restrict these mutations to specific points in development and specific cell types. This dream became reality when groups in the USA were able to introduce bacteriophage and yeast-derived site-specific recombination (SSR-) systems into mammalian cells as well as into the mouse
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