+61480015851
BIOL345: Human Genetics Theory - Bioinformatics Report Writing Assessment Answer
Download Solution
Order New Solution
Internal Code: E_AI_DGCD_EF
Code: BIOL345
Human Genetics Theory Assessment Answer
Assignment Task: BIOL345 You are a geneticist working at a diagnostics lab, analyzing the results of genetic sequencing A clinical genetics service has provided your lab with multiple patient samples, for which sequences have been generated using a next-generation sequencing panel, covering approximately 100 genes. Four of the patient sequences showed a variant in a particular gene of interest, and you are now tasked with classifying these variants using the ACMG variant classification system. Some notes to guide you: BIOL345- There is only one mutation per patient
- Your residue of interest may only be covered by a few species in your protein alignment – this is ok, just note it in your report.
- Silent mutations are indicated at a protein level using the following format: p.Arg172=
- Present relevant overview information about the condition you are investigating, and the gene of interest
- Identify the variant in each of your four patient sequences, using the HGVS nomenclature system: http://www.hgvs.org/mutnomen/recs-DNA.html
- Analyze each variant to build evidence regarding its pathogenicity classification. This should include (where possible/appropriate):
- Information about conservation of the residue of interest across multiple species
- Information from at least two healthy population databases
- Analysis via at least two protein prediction algorithms
- An overall prediction of classification for each variant based off of the above information, with justification
- Variant classification status from at least two variant databases
- Provide discussion or commentary on all of the above, backed by scientific literature, to demonstrate your understanding of the steps you have taken, and variant classification in general. This might include topics such as: BIOL345
- Are any of your results ambiguous or incongruous? Can you explain what might be behind this?
- Give detailed information about each type of information you have used in your variant – how is this information actually generated, what is it based on?
- How does each type of evidence you have included in your analysis assist in determining if the variant is pathogenic or benign? What are the pros and cons of each type of evidence?
- What other types of information or analysis could be used to inform whether a variant is pathogenic or benign? Give details.
- Critique the variant classification system in general – what are the strengths and weaknesses of this approach?
- Any other details you feel add to your report on the significance of your variants, and variant classification in general.
- What reproductive options are available for those looking to have a child, when a mutation has been detected in the family? Discuss details and considerations in taking such steps.
- Compare disease gene discovery in the 1990s to current techniques used – what similarities and differences are found between the approaches? BIOL345
- The majority of conditions we consider ‘genetic’ today are monogenic, ie caused by changes in a single gene. How does the ‘polygenic risk score’ approach differ? (lecture on this after the midsem break)
This BIOL345: Bioinformatics Assessment has been solved by our Bioinformatics experts at My Uni Paper. Our Assignment Writing Experts are efficient to provide a fresh solution to this question. We are serving more than 10000+ Students in Australia, UK & US by helping them to score HD in their academics. Our Experts are well trained to follow all marking rubrics & referencing style.