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Fundamental principles of molecular biology

  • exploit knowledge of the fundamental principles of molecular biology to analyze contributions of DNA and proteins to human physiology and behavior
  • identify, select, and query the appropriate database to best answer the bioinformatics question at hand, and effectively and accurately interpret the outcome
  • use information gained from the application of bioinformatics to appreciate its impact on proteomics, epidemiology, and evolutionary biology
  • recognize current and emerging technical challenges and areas of innovation inherent in the field of bioinformatics to target career opportunities and development

For the final project, you will use the gene you identified in the gene annotation project and the protein used in protein annotation project to:

  • Identify the diseases implicated by your gene: genomic features at the gene level. i.e SNPs
  • Identify the diseases implicated at protein level: mutations at protein and structural levels: could include variations in amino acid, motifs, functions etc.

Select one disease either at the gene or protein level and provide more detailed discussion on:

  • Briefly explain the disease mechanism as it relates to the gene/protein
  • The bioinformatics approaches used to identify the specific genomic features implicated
  • Identify and discuss the bioinformatics and data analysis tools to identify the implicated genomic features the disease.
  • Discuss the drug targets identified if any implicated pathway

General requirements:

  • Screenshots must be provided for the tools used.
  • Minimum number of pages is 3 and maximum is 6 pages (750 – 1500 words)
  • Must include references
  • It must be written in a research paper format including an abstract and title.
ContentExcellentVery GoodGoodFairPoor
General RequirementsAll the general requirements are metMost of the general requirements are metSome of the general requirements are metA few general requirements are metno answer
AbstractVery well written abstract indicating what the paper is aboutGood abstractFairly-written abstractVery vague abstract not indicating what the paper is aboutno answer
Disease identificationIdentifies diseases and the genomic features at both gene and protein levelsIdentifies at the diseases and implicated genomic features only at either protein or gene levelIdentifies diseases at both protein and gene level but not the genomic featuresIdentifies the diseases only at either gene or protein levels and no genomic featuresno answer
Disease mechanismVery well written description of the disease mechanismGood description of the disease mechanismFair description of the disease mechanismVague description of the disease mechanismno answer
Bioinformatics approachesClearly describes the bioinformatics approachesGood description of the bioinformatics approachesFair description of the bioinformatics approachesVague description of the bioinformatics approachesNo answer
Bioinformatics and data analysis toolsCorrect and good discussion identification of bioinformatics & data analysis toolCorrect tools are identified and fairly -discussedCorrect tools are identified but no discussionIdentified tools cannot be used for identifying implicated genomic features in the selected diseaseNo answer
Drug targets & pathwaysIdentifies the correct drug targets and the implicated pathwaysIdentifies the drug targets but not the pathwaysIdentifies the pathway but no drugsWrong identifications of pathways and drug targetsNo answer


Last Updated on April 28, 2019

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