Bioinformatics- Genomes

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Year 2 Flashcards on Bioinformatics- Genomes, created by gina_evans0312 on 28/12/2013.
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Flashcards by gina_evans0312, updated more than 1 year ago
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Created by gina_evans0312 over 10 years ago
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Resource summary

Question Answer
Ensembl- 'Evidenced' Proteins Proteins that have been found
Ensembl- Proposed Proteins Proteins suspected, but not yet found
Ensembl- Consensus Genes Genes consisting of the most frequent polymorphisms in all known alleles
Ensembl- GENSCAN Used to create consensus sequences
Ensembl- CCDS Tag NCBI, USC, Havana and Ensembl all agree it exists
Ensembl- Data Taken from NCBI, UniProt, Havana and TrEmbl Reference Sequences
Ensembl- ENSGxxxxxx Ensembl Gene ID
Ensembl- ENST Ensemble Transcript ID
Ensembl- ENSP/E Ensemble Peptide/Exon ID
Comparisons- Within a single genome For gene order, regulatory elements, etc
Comparisons- Comparing Genomes Conserved regions, evolutionary links etc
Process Transcript RNA that won't be transcribed into a protein
Comparing Genomes- Browsers to Use NCBI, Ensembl, UCSC
API Database that uses automatic data extraction by other bioinformatics programmes
DAS Database that integrates with other databases to keep it up to date
UTR Untranslated Region
Encode Project Aimed to find every type of functional element in the human genome- completed 2012
Havana (VEGA) Group who manually edit gene data- accurate and flexible but slow and expensive
Ensembl- Red Sq Speciation event
Polymorphis DNA variation that is present in at least 1% of people
SNP Change in single nucleotide
Practical Applications of SNP's- Association Studies Studies of traits (one of which is known to be genetic) that commonly appear together
Practical Applications of SNP's- Disease Diagnosis SNP's are commonly implicated in genetic diease
Practical Applications of SNP's- Population Studies Useful in genetic/evolutionary studies
Practical Applications of SNP's- Pharmacogenetics The tailoring of drugs to the individual
Essential Splice Site SNP In the first or last two bases of an intron (as this effects splicing)
COSMIC Database Database of somatic cancer causing SNP's
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