Part D) History of Genetic Studies 12) Hirschhorn and Daly (2005) describe genom
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Part D) History of Genetic Studies 12) Hirschhorn and Daly (2005) describe genome-wide association studies (GWAS) as being superior in some instances to Mendelian linkage-based analyses. How do Hirschhorn and Daly support this claim? Reference: Hirschhorn, J. N., & Daly, M. J. (2005). Genome-wide association studies for common diseases and complex traits. Nature Reviews Genetics, 6(2), 95-108. 13) Describe DisGeNet in terms of its construction and features. Based on the article, as described by the authors, what specific aspects of it make it better than other SNP databases? Reference: Piñero, J Queralt-Rosinach, N., Bravo, À., Deu-Pons, J., BauerMehren, A., Baron, M, ...& Furlong, L. I. (2015). DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes. Database, 2015, bav028.Explanation / Answer
Genome Wide Associated Studies (GWAS):
There are many possible methods are there for mapping the genes that are based on the common diseases and quantitative traits are of two categories, where they are candidate-gene studies, which uses the mapping of genes or the gene wide associated studies (GWAS).
This GWAS has been used in identifying the diseased genes and for the mapping of genes associated with the Mendelian disease.
First, for the linkage analysis, the markers which are related with the disease must be segregated from the disease.
The monogenic disorders are rare and hence these segregated alleles will be present within 10-20 cM chromosomal background.
Where, these Mendelian diseases are caused by highly penetrant variants, hence the markers present within the 10-20 cM of the alleles will co-segregate with the disease status.
This Genome wide linkage analysis is used for many common diseases and quantitative traits, but it will not apply for the above mentioned Mendelian diseases.
Hence for some cases, the the genomic region which shows the significant linkage to that diseases has been identified, where they include the diseases, Inflammatory Bowl Disease, schizophrenia, and type 1 diabetes.
By these significant linkage the variants that contributes the susceptibility of the above mentioned diseases has been identified.
Moreover, this linkage analysis shows, less advantage in finding the common diseases and traits, but for some of these Mendelian diseases they are significant.
DisGeNET :
DisGeNET is a open resource containing collection of large number of human gene association and various tools for molecular mechanisms.
It is also designed to address a variety of questions related to human genetical disorders. Where it integrates expert-curated database and text-mined data which has the informations on the Mendelian and other complex diseases.
Mostly, this DisGeNET contains one of te key feature that is the explicit representation, which provides the users with the original source information with its original context.
The availability of both the comprehensive knowledge as well as the tools, makes the DisGeNET a powerful resource for the users.
It includes the automated generation of Bash, Perl, Python and, R scripts to reproduce the analysis.
There is the DisGeNET platform which allows prioritizing of GDA’s on the basis of the data recorded.
Based on the origin and level of curation, it is divided into
Where all these combined together iorder to make the DisGeNET a powerful and a user friendly open source search tool.
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