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  • University : western sydeny university
  • Subject Name : genes, genomics and human health

Nursing Question and Answers

Answer 11:- DNA sequencing can be termed as ascertaining nucleic acid sequence. It includes methods that are used to assess or determine four bases which are as follows, thymine, cytosine, adenine, and guanine. DNA sequencing is basically used to determine the kind of genes or genetic information present in particular DNA that carries regulatory instructions.next-generation sequencing (NGS) has a significant impact on the technological revolution in the field of medicine and human biology.NGS is rapidly growing and it leads to an increase in the number of genes that are related to human disorders and complex diseases. NGS platforms provide parallel sequencing of divergent target regions, NGS is extensively used in diagnostics. Nowadays clinical laboratories widely using NGS. NGS majorly used in diagnostics of immune disorders, human hereditary disorder, infectious diseases, non-invasive prenatal diagnosis, and in the therapeutic decision for somatic cancers.there are various NGS platforms which are available for diagnostic applications. The greatest advantage of the NGS approach is it is able to deliver a clinical diagnosis in a short span of time.in today’s scenario, NGS technologies are very useful to determine genetic variations in a patient who has an important reduction in cost and high accuracy.

Answer 12:-(GWAS) Termed as a genome-wide association. These methods are hypothesis-free methods that are used to identify associations between traits which include diseases and genetic regions. Phenotypes differences caused due to individual genetic variations. (GWAS)the approach is basically used to associate a particular disease with specific genetic variations. (GWAS) is very important in human genetics because it tells us about the genetic risk and disease susceptibility to develop new treatment strategies.in genetics, the portion or region of an organism genome which consists of historical evidence of genetic recombination, and contains distinct small haplotypes is known as haplotype blocks. linkage disequilibrium (LD) is termed as nonrandom associations of alleles at different sites. according to the recent studies in the human, genome LD can be encapsulated by a series of distinct haplotype blocks. The variability in the regions is the result of various factors which are as follows, inherent stochasticity of LD, large scale variations in recombination rates, fine-scale variations in recombination rates like hotspots.LD is important for gene mapping studies and it can provide discernment into human demographic history and biology of recombinations. Haplotype blocks identification can be used for future association studies but there will be soma region of the genome that is not covered by large haplotype blocks and for these, new approaches are used.

Answer 13:- the major difference between direct and indirect association is indirect evidence. The diseases which are identified on the basis of indirect evidence are termed as indirect associations.in the absence of direct evidence we try to figure out indirect evidence such as finding common and related diseases like inflammatory bowel diseases, ulcerative colitis, Crohn”s disease. Establish a connection between common diseases and rare diseases like inflammatory bowel disease and autosomal recessive early-onset inflammatory bowel disease. Collect evidence of all diseases in an area, identifying unanticipated associations.in complex diseases, the susceptibility needs to be defined and highlights the identification of unceremonious variants in complex disease in extensive linkage disequilibrium.direct and indirect associations attains importance in various applications such as health care analysis. Association can be understood by an example that there are two variables change in one variable automatically makes a change in other, both variables are interdependent.there is a direct impact of one event on another.direct association and indirect association is types of genetic association which are known as the relationship between phenotype and haplotype.

Answer 14:- eQTL stands for expression quantitative trait loci. it elaborates a fraction of the genetic variance of a gene expression phenotype. A quantitative trait phenotype is measurable and it depends on the accumulative action of the environment and many genes. For continuous distribution of phenotypes, these traits vary among individuals. examples of quantitative traits can be blood pressure, height, and weight. When two alleles of a gene have different levels in a cell because of genetic variations in regulatory regions or epigenetic inactivation of one of the two alleles this phenomenon is termed as an allelic imbalance. the leveraging allelic imbalance is used to refine fine mapping for QTL studies.fine-mapping is the process that is used to analyze (GWAS) which stands for genome-wide association study. the major difference between expression quantitative trait loci (eQTL) and genome-wide association study (GWAS). GWAS studies association between binary traits and alleles like disease sufferer, on the other hand, eQTL, deals with variation in traits like height, weight, blood pressure. The main motive of eQTL mapping is to affect quantitative traits variations in a population. identifying complex traits is also very important. casual variants detection is very challenging because of complex genetic correlations among variants which are known as linkage disequilibrium.

Answer 15:- SNPs stand for single nucleotide polymorphism. SMPs are the substitution of a single nucleotide at specific position in the genome that is sufficiently present in large fraction of the population. SNPs can help us to track the inheritance of diseased genes with families. SNPs can also help in getting the prediction of an individual’s response to certain drugs.SNPs are basically biological markers they help the scientist to identify the genes that are disease-causing or associate with disease.SNPs can be identified because of their unique design which includes molecular beacons. Global allele frequency distribution of SNPs is important because of two reasons, firstly the contribution to variability in its phenotype in a given population is determined by the frequency of a trait associated allele. SNPs prefer contributing directly to phenotype variations rather than tagging causative variants. secondly, large allele frequency differences between populations for trait-associated SNPs.through GWAS and SNPs scientist develop their understanding of how to diagnosed and treat disease. The major benefit of the GWAS approach is that at the same time a large number of SNPs can be tested, this is the key benefit of GWAS.

Answer 16:- GWAS stands for genome-wide association study which is used to make predictions about who is at the risk. the polygenic disease can be termed as a genetic disorder that is caused by the amalgamate action of more than one gene. Coronary heart disease. Diabetes, hypertension are some examples of polygenic disease.GWAS has already detected various diseases including breast cancer. A genomic basis is clarified with such findings. GWAS USED polygenic model which suggests that genetic variants could also impact diseases. GWAS polygenic model gives rise to polygenic diseases which are caused by amalgamate action of more than one gene.GWAS data also evaluates the relationship between disease and SNPs. the polygenic disease is the interaction of more than one gene. In humans, polygenic conditions occur more frequently. Some major examples of polygenic diseases are autoimmune disease, cancer, obesity, atherosclerosis, diabetes, some non-gene factors which can minimize the effect of diabetes are lifestyle, diet, etc. polygenetic disorder is the most common disorder with single genetic cause polygenic disease includes non-communicable diseases such as diabetes, cancer, Mellitus. GWAS studies the polygenic model and explains to us about the polygenic diseases and their effects GWAS explains that these diseases are single-gene disorders.

Q.17- Induced pluripotent stem cells have tremendous prospective to advance treatment by customizing beneficial medicine and creating innovative human illness models for analysis and medicinal testing. Formerly, this automation is widely used in clinics, we must faithfully estimate its disease modelling and medicinal potential. Induced pluripotent stem cell technology comes out of a need to expand research tactics to make personalized, persistent specified stem cell treatments while expanding a superior academic conception of the malleable pinpointing of stem cells. Induced Pluripotent stem cells such as unborn stem cells can transform into all cell types. So these cells can be an organic resource for constructive medicine. These pluripotent stem cells reprogrammed from somatic cells to manifest pluripotent features such as the revitalization of pluripotent related genes, deactivation of tissue-derived genes, distinction perspective to all three germ layers, and a particular epigenomic condition corresponding to the pluripotent cells. Consequently, pluripotent reprogramming may authorize us to use the effortlessly approachable cells for therapy of disease without moral issues. Although, the contraptions underlying cellular reprogramming are mostly familiar. The basic method of somatic cell transfer includes transporting the nucleus of the bilateral cell to an elucidated oocyte. The pre immunization stage fetus is then sustained in a succeeding culture media and the evolved fetus is transferred to the nurturing mother.

Q.18- The important procedure enhanced by Re-linked regulation is linked with aromatic, dichromatic vision, gametogenesis and insemination, some characteristics of immune and diaphragm responses, intracellular fragment trading, catabolism of amino acids, nutrients and fatty acids and catabolism, xenobiotic anabolism and crashing. Entirely to the clashing, the insufficient alleyways were tangled in protein mixture and ribosome propagation, RNA correspondence and transforming, endoplasmic chromatin corporation, fetus development, cell exposures, most of the communicating alleyways and some other slants of dispensation.

The important sporogenous histone modifications that are complexed in gene regulation are:-

H3K4me3, H3K27me3, and H3K27ac. In specific, the H3K4me3 moderation is tremendously enhanced at active proponents near stenography start sites and contemplates as stenography awaking sporogenous biomarker. Likewise, H3K27ac moderation symbolizes active gene testimony. On the contrasting side, H3K27me3 is polychromatic connected histone marks fixed for integral and discretional polychromatic, independently. The existence of H3K27me3 stipulates repressed correspondence activity in proximate genome provinces. Consequently, the above mentioned three sporogenous marks form two minimalist groups:- one connected with stenography awaking (H3K4me3, H3K27ac) and one connected with stenography conquering (H3K27me3). The regulatory advancement rates of human genes and fragment alleyways by the use of the human cells based on H3K4me3, H3K27ac, and H3K27me3 histone tags, respectively.

Q.20- The hypothesis of a genome-wide association study:- It is a kind of method for recognizing associations between genetic provinces and peculiarities. For a long time, it has been known that genetic inequality between individuals can seed dissimilarities in phenotypes. These innovative variants, and those which are deeply linked to their provinces of the chromosome, are consequently present at a higher rate of occurrence in cases than in controls. The transformation to genome-wide association studies has furnished a new imaginary substructure in the search for alternatives underlying usual disorders. Preferably than concentrating on biological applicant genes, the genome is concealed without any preceding preference for specific provinces.

Polygenic Risk Score:- Many persons have a sickness, or various illnesses, that are pretentious by changes in either one or several of their genes, habitually coupled with surrounding factors. A polygenic risk score is the one method by which people can learn about their possibility of growing a disease, formed on the total number of changes associated with the disease. These polygenic risk scores can assist in individualize preventive measures and could soon enhance the part of standard healthcare practise, once some restrictions are overcome. The postulation of polygenic risk scores had been transmitted among many researchers. However, these scores were manifest to have prospective for broad-scale impersonal use.

Q.21- Penetrance broaches to the proportion of people and with a specific genetic change who demonstrates signs and symptoms of a genetic disorder. If some persons with the mutation do not evolve the qualities of the disorder, the situation is said to have diminished penetrance. Reduced Penetrance frequently occurs with genetic cancer syndromes. Reduced Penetrance likely results from a mixture of genetic and lifestyle aspects, many of which are known. This circumstance can make it demanding for genetic professionals to elucidate a person’s family medical chronicle and prognosticate the possibility of passing a genetic condition to the upcoming generations. Penetrance can be tough to determine accurately, even for a genetic illness that is caused by a single polymorphic chromosome. For many genetic diseases, the beginning of symptoms is age-related and is pretentious by environmental elements such as nourishment and smoking, moreover genetic co-factors, and sporogenous regulation of expression. Human Autosomal presiding disease is exceedingly infrequent conditions in which pretentious individuals are heterozygotes. Many of these heterozygous genotypes demonstrate the occurrence of insufficient penetrance. Exact approximations of the penetrance value are dominant not only for influencing genetic disease possibilities in families with isolating cases of autosomal presiding disorders but also for accomplishing linkage studies.

Q.22- All cancers appear as a result of changes that have eventuated in the DNA sequence of the genomes of the cancer cells. Over the previously precinct of a century, much has been learned about these mutations and the unrepresentative genes that intervene in human cancers. Currently, moving into an era in which it will be possible to acquire the absolute DNA sequence of massive numbers of cancer genomes. Cancer is the superintendent for one in eight deaths pandemic. It encloses more than 100 marked diseases with miscellaneous risk elements and sanitation which emanate from most of the cell types and organs of the human body and are signalized by the comparatively unconstrained proliferation of cells that can conquer beyond normal tissue extremities and percolates to distant organs. All cancers are conceived to share familiar pathogenesis. Each is the consequence of a procedure of Darwinian expansion eventuating among cell populations inside the microenvironments dispensed by the tissues of a multicellular organism. Comparable to Darwinian expansion eventuating in the origin of species, Cancer enlargement is based on two elemental processes, the continual accession of inherited genetic variation in independent cells by more-or-less unsystematic mutation and inherent selection acting on the resultant phenotypic heterogeneity. The selection may segregate out cells that have obtained disadvantageous mutation or it may foster cells fetching adaptations that confer the potentiality to proliferate and survive more constructively than their neighbors.

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