Question 1 Demonstrate your understanding in the basic concepts of molecular genetics by critically evaluating the following statements: Question 1a The statistical significance of a BLAST result can be assessed through E-values.

Concepts of molecular genetics

Question 1 Demonstrate your understanding in the basic concepts of molecular genetics by critically evaluating the following statements: Question 1a The statistical significance of a BLAST result can be assessed through E-values. (5 marks) Question 1b When comparing two sequences, it may be necessary to repeat the search using different scoring matrices. (5 marks) Question 1c Protein alignments are often more informative than DNA alignments. (5 marks) Question 1d Position specific iterated BLAST (PSI-BLAST) is often more sensitive than a regular BLAST search in finding distantly related protein sequences. (5 marks)

Concepts of molecular genetics

Question 1e Benchmarking is an important approach to compare different software and to determine their accuracy. (5 marks) Question 2 You have been assigned the task of determining the functional importance of the human CFTR gene. Investigate and solve the following questions: Question 2a List the full name and gene ID of this gene and the RefSeq IDs of its corresponding mRNA and protein. (5 marks) Question 2b State the chromosome in which the human CFTR gene is found on, and in the tissues where it shows high expression. (5 marks) Question 2c Discuss the function of this gene. (5 marks) Question 2d List any FIVE (5) pathways this gene is involved in, using Reactome pathway database as the source. (5 marks) https://youtu.be/x7SCy2c8mF8

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