Bioinformatics- Genomes

Pregunta	Respuesta
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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