What is heritability GGHH revision questions assignments

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What is heritability GGHH revision questions assignments

GGHH Revision Questions
(taken from Depth Studies and Online Revision Workshops, 2020)

Firstly, what is heritability?
Many people wish to discover who they are related to and who their ancestors are. This can be done using genealogy and genetics, but are they equivalent in the information they deliver?
Secondly, describe the regulation of transcription by enhancers and promoters
Thirdly, consider the diagrams below. What could you say about the likely effect size (penetrance) of individual alleles on the phenotype in each of the 4 diagrams?

Fourthly, what is a single nucleotide polymorphism? How many SNPs are found across the human genome, and do all populations have the same SNPs?
The BRCA1 gene was identified as the mutated gene in familial breast cancer by studying many large families and carrying out linkage analysis. The genetic basis of phenotypes such as Type 2 diabetes is typically investigated using population-based large cohorts of affected and unaffected individuals. Explain the reasons for the different approaches used to investigate genetic basis of these two illnesses.

Explain the importance of haplotypes when carrying out genome-wide association studies. Include in your answer the following: tagging SNPs, linkage disequilibrium, direct association, and indirect association
What do you understand by “DNA conservation” and how might this be apply to understanding the genetic basis of human health and disease?
Why is Next Generation DNA sequencing describe as “massively parallel DNA sequencing”? Describe the 5 steps of the “sequencing by synthesis” method of Next Generation DNA sequencing
What is coverage and why is this important?

What is heritability GGHH revision questions assignments

Consider the following statement: “Next generation DNA sequencing is becoming an important methodology to better understand rare diseases in very young babies”. Describe the use of this technology in this context, including advantages and possible problems that are associate with this methodology.
Define “association” in the context of a GWAS What is a haplotype block and how is this related to linkage disequilibrium?
Define direct and indirect associations
Describe an eQTL and how this can be related to allelic imbalance
Why might SNPs in loci associated with the immune response generally show the greatest difference in allele frequency between different populations

16. What have GWAS taught us about the genetic basis of common, polygenic disease?

Explain the following statement: “Induced pluripotent stem cells (iPSC) arise through reprogramming of adult somatic cells”
Assign the following histone modifications to gene transcription activation or repression: Histone 3 lysine 4 tri-methylation (H3K4me3); Histone 3 lysine 27 tri-methylation (H3K27me3); Histone 3 lysine 27 acetylation (H3K27ac). How do these small modifications of histone tails regulate gene expression?
Compare and contrast changes in epigenetic control of gene transcription associated with mutations causing Rett syndrome, Fragile X and the increased expression of the TAL1 gene in some cases of T-cell acute lymphoblastic leukemia (T-ALL)
What is the hypothesis of a genome-wide association study and what is a polygenic risk score?