Introduction to bioinformatics - National Genetics Reference ...

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Issue 1: Why so many IDs? Biology! Gene Symbol (CFTR) GeneID – Unique to organism (1080) Transcript ID -1 •Transcript 1 version1 •Transcript 1 version2 •Transcript 1 version3 Transcript ID -2 etc •Transcript 2 version1 •Transcript 2 version2 When publishing always refer to sequence accession number (unique), version and date of database, and the gene symbol.
Issue 2: Data Quality • Is the sequence and associated data up-to-date? • Genbank/EMBL allow direct submissions of nucleotide sequences by the scientist who actually conducted the sequencing • It is the responsibility of the author to keep the database entry up-to-date – sequence may change, features found etc. • There is no or little data quality check carried out by the hosting institutions.
Page 1 and 2: Shedding some light on Bioinformati
Page 3 and 4: What is Bioinformatics? “Bioinfor
Page 5: GENE EXPRESSION ANALYSIS COMPARATIV
Page 8 and 9: Growth of Sequences and Annotations
Page 10 and 11: Computers - they are your workbench
Page 12 and 13: Computer Software On a computer the
Page 14 and 15: Major Bioinformatics Databases •
Page 16 and 17: Nucleic Acid Sequence Databases •
Page 20 and 21: Issue 3: Data redundancy COMMENT RE
Page 22 and 23: CDS 133..4575 Database entries usua
Page 24 and 25: FEATURES Location/Qualifiers source
Page 26 and 27: NCBI Map of links between Entrez no
Page 28 and 29: An accession number and identifer N
Page 30: Issue 5 cntd. • Most databases st
Page 34: Issue 6 cntd: : Standard vocabulary
Page 37 and 38: Issue 7: sequence formats - how man
Page 39 and 40: Multiple FASTA sequences in one fil
Page 41: Sequence Retrieval System (SRS) •
Page 44 and 45: Issue 8: Keeping up-to to-date with
Page 46 and 47: Issue 10: Data Security and Clinica
Page 48: We all are bioinformaticians! “Bi

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