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Lecture notes

GEN 4: Comparative Genomics

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Lecture notes from Imperial College London, Medical Biosciences BSc, 2nd year, genetics and genomics (GEN) module. By comparing the sequences of different species we can identify sequences that have been conserved over long periods of evolution and so are likely to have important biological functions. You will also see how the extent of such sequence conservation can be used to measure evolutionary relationships between the species. Similarly, when comparing sequences repeats within a single genome, the extent of conservation can indicate when and how such repeats arose during evolution. Finally, learn how, by comparing the genomes of individuals within a species, sequence differences that correlate with a particular phenotype learning objectives: LO1: Identify features shared between the human genome and genomes of model organisms and pathogens. LO2: Infer evolutionary relationships between organisms based on comparison of their genome sequence. LO3: Describe the mechanisms by which genomes can change, and how this change can result in evolution. LO4: Describe the major databases cataloguing human genetic variation and be able to find relative allele frequencies of polymorphic sites. LO5: Appreciate the importance of comparative genomics in modern medicine.

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Uploaded on
October 4, 2023
Number of pages
3
Written in
2022/2023
Type
Lecture notes
Professor(s)
Andy porters
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All classes

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Comparative Genomics
Genomic variation between species
- genome variations: inter-species/ intra-species



- diversity lies in the DNA
sequence & amount of ncDNA




Comparative sequence analysis
- genome browsers/ database: bioinformatics tool w/ genomes of any species => UCSC & Ensembl
=> can find position of gene, number of exons + aa of ≠ gene transcripts (alternative splicing)...
- conserved sequence = similar sequences in the genome of ≠ species (= orthologs)
=> DNA sequence alignement: to match between 2 sequences (different weightings chosen)
=> exact:
=> mismatch:
=> gaps:
50 %
of 2 % Lexons



- we share 0.75% of our DNA with bananas (50% of human genes have orthologs in bananas)
L




- online sequence comparison programmes (ex: Clustal):
- dash (-) = gap
- star (*) = all sequence
have an identical base


Phylogenetic tree construction
- on clustal: => human & mouse (mammals) are the most similar
=> drosophila diverged + has a ≠ origin to mammals
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