Assessment summaryThis final assessment will simulate a real-life industry-based scenario in which...

Question

Assessment summaryThis final assessment will simulate a real-life industry-based scenario in which you will implement all the skills you have developed garnered during the semester.Task instructionsDownload theinstructionsand complete the questions. Each question has a guide for how long it should be. Please use this as a guide, however you will be assessed on your ability to give succinct, but informative reports.Learning OutcomesThe Learning Outcomes for this assessment are:Explain the basic principles that underpin Bioinformatics analyses, and apply these principles when analysing biological data;Analyse biological data using a variety of Bioinformatics tools; andInterpret correctly the outputs from tools used to analyse biological data and make meaningful predictions from these outputs.Assessment CriteriaYou will be assessed on your ability to:Complete the tasks and write a succinct, informative reportSubmission instructionsYour final report must be submitted via turnitin

P · Accepted Answer

Solutions:
1. In this study the sequencing study suggested was the Next Generation Sequencing studies.
Next generation sequencing studies (NGS):
Genomic assay studies by NGS will help for the identification of various mutations associated with the neuroblastoma.
NGS is mainly used for the detection of 
1. Single nucleotide polymorphism (SNPs)
2. Indel mutations
3. Copy number variation (CNV) for the identification of the targets can be performed by the NGS studies.
Steps to be followed:
1. Collection of the patient tissue samples
2. DNA Extraction
3. Targeted NGS- sequencing of the sample
4. Bioinformatic analysis-sequence reads are aligned and the duplicates were removed.
Re-alignment for the identification of the indel positions and SNPs recalibratortool
Filtration of the germline variants
Somatic variations were curated by removing the false positives
Finally analysis of CNV variations.
Figure 1. Simplified illustrations on how next-generation sequencing (NGS) helps target identification for drug development. (a) NGS on well-phenotyped populations from healthcare systems can potentially reveal phenotype-specific drug targets for multiple diseases or traits simultaneously; (b) NGS can be leveraged on extreme tails of a phenotype distribution to identify genetic targets of a specific phenotype of interest.
(Torshizi, A. D., & Wang, K. (2018). Next-generation sequencing in drug development: target identification and genetically stratified clinical trials. Drug discovery today, 23(10), 1776-1783).
This method is highly selective and detects the low-frequency variations also and is cost-effective as many samples can be sequenced at a time within a short time.
2. The identified targets for the current study are :
1. >sp|Protein1 : N-myc proto-oncogene protein
2. >sp|Protein2 LRRK2 
3.

Assessment summary This final assessment will simulate a real-life industry-based scenario in which you will implement all the skills you have developed garnered during the semester. Task instructions...

Solution

Answer To This Question Is Available To Download

Related Questions & Answers

Submit New Assignment