Question Description

  • exploit knowledge of the fundamental principles of molecularbiology to analyze contributions of DNA and proteins to human physiologyand behavior
  • identify, select, and query the appropriate database to best answerthe bioinformatics question at hand, and effectively and accuratelyinterpret the outcome
  • use information gained from the application of bioinformatics toappreciate its impact on proteomics, epidemiology, and evolutionarybiology
  • recognize current and emerging technical challenges and areas ofinnovation inherent in the field of bioinformatics to target careeropportunities and development

For the final project, you will use the gene you identified in thegene annotation project and the protein used in protein annotationproject 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 atprotein 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.



Very Good










General Requirements

All the general requirements are met

Most of the general requirements are met

Some of the general requirements are met

A few general requirements are met

no answer


Very well written abstract indicating what the paper is about

Good abstract

Fairly-written abstract

Very vague abstract not indicating what the paper is about

no answer

Disease identification

Identifies diseases and the genomic features at both gene and protein levels

Identifies at the diseases and implicated genomic features only at either protein or gene level

Identifies diseases at both protein and gene level but not the genomic features

Identifies the diseases only at either gene or protein levels and no genomic features

no answer

Disease mechanism

Very well written description of the disease mechanism

Good description of the disease mechanism

Fair description of the disease mechanism

Vague description of the disease mechanism

no answer

Bioinformatics approaches

Clearly describes the bioinformatics approaches

Good description of the bioinformatics approaches

Fair description of the bioinformatics approaches

Vague description of the bioinformatics approaches

No answer

Bioinformatics and data analysis tools

Correct and good discussion identification of bioinformatics & data analysis tool

Correct tools are identified and fairly -discussed

Correct tools are identified but no discussion

Identified tools cannot be used for identifying implicated genomic features in the selected disease

No answer

Drug targets & pathways

Identifies the correct drug targets and the implicated pathways

Identifies the drug targets but not the pathways

Identifies the pathway but no drugs

Wrong identifications of pathways and drug targets

No answer