Bioinformatics analysis of tubercluma patients

Project Title

Bioinformatics analysis of tubercluma patients

Project Area of Specialization Biomedical EngineeringProject Summary

We have carried out a case study of suspected tuberculoma patient. we have analyzed the clinical data of this patient. We concluded to carry out genome sequencing of this patient in order to have better diagnosis and treatment of this patient. For exome sequencing, we have extracted the DNA from the blood of the patient and run the gel by using agarose gel electrophoresis method. Now the DNA is sent to Beijing for Exome sequencing, DNA reached the country successfully and is now being sequenced, after getting the sequence we will check for mutations and specific cause for the condition of patient. 

Project Objectives

Exome sequencing of the patient was advised to find genetic defects for better diagnosis and treatment.

Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons – humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology.

The goal of this approach is to identify genetic variants that alter protein sequences, and to do this type of disease.

Project Implementation Method

1: DNA Extraction

2: Check Extracted DNA on Gel Electrophoesis

3: Send for Exome Sequencing

4: Download Sequenced Data

5: Apply Bioinformatics tool to find Mutation

Benefits of the Project

This project will help in findig the cause of patient's condition and this will help in treting thousands of other patients like him of whom we can easily find the cause via Genomics.

Technical Details of Final Deliverable

When we will get the data and will be able to find the mutation we can direct thedoctors to treat the specific gene via Protein based drug or some other therapy.

Final Deliverable of the Project Software SystemCore Industry MedicalOther IndustriesCore Technology OthersOther TechnologiesSustainable Development GoalsRequired Resources

Item Name	Type	No. of Units	Per Unit Cost (in Rs)	Total (in Rs)
			Total in (Rs)	64500
Proteinase K	Miscellaneous	1	1500	1500
Exome Sequencing	Equipment	1	55000	55000
DNA extraction Kit	Miscellaneous	2	4000	8000