Bioinformatics 1 Exercise 1
Notes
Part I – NCBI databases, BLAST (Insulin sequences)
1.1 Find difference between insulin sequences in pig and human. Documente and discuss points 1-9.
1.2 Show that sequence cosing for C-peptide is less conserved than sequences for the A-chain and the B-chain
Part 2 – NCBI databases, OMIM (Monogenetic disorders)
Find information on SICKLE CELL ANEMIA and KABUKI SYNDROM.
2.1 Which genes/proteins are involved?
2.2 On which chromosome (arm, cytogenetic band) genes are located?
2.3 What is the position and strand on the human reference genome assembly (GRCh38/hg38)?
2.4 Can these genes also be found in the mouse?
2.5 Are there common mutations i.e. non-synonymous single nucleotide polymorphism (SNPs) known?
2.6 What is the function of the encoded proteins?
2.7 Find recent publications