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Bioinformatics

Bioinformatics. Bioinformatics . Sequence information Mapping information Phenotypic information Literature Prediction programs Gene prediction Promotor prediction Functional prediction Structural prediction Variant annotation . http://www.ncbi.nlm.nih.gov/. Genome browsers .

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Bioinformatics

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  1. Bioinformatics

  2. Bioinformatics • Sequence information • Mapping information • Phenotypic information • Literature • Prediction programs • Gene prediction • Promotor prediction • Functional prediction • Structural prediction • Variant annotation

  3. http://www.ncbi.nlm.nih.gov/

  4. Genome browsers • ENSEMBL: http://www.ensembl.org/index.html • UCSC : http://genome.ucsc.edu/

  5. http://www.ensembl.org/index.html

  6. Assembly converter

  7. http://genome.ucsc.edu/

  8. Assembly converter

  9. https://decipher.sanger.ac.uk/

  10. http://dgv.tcag.ca/dgv/app/home

  11. Genomic variant analysis • Genomic variants • Mutation: literature, HGMD, gene specific databases • Polymorphism: dbSNP, EVS • Prediction programs

  12. http://www.ncbi.nlm.nih.gov/SNP/

  13. http://evs.gs.washington.edu/EVS/

  14. http://scholar.google.be

  15. http://sift.jcvi.org/

  16. CFTR: p.N1303K

  17. CFTR: p.N1303K

  18. Polyphenhttp://genetics.bwh.harvard.edu/pph2/

  19. Mutation Taster http://www.mutationtaster.org/

  20. But beware……!!!!! There are manyexamples of knownpathogenicvariantspredicted to bebenign and vice versa

  21. HumanSplicingFinderhttp://www.umd.be/HSF/

  22. Splice Site Predictionhttp://www.fruitfly.org/seq_tools/splice.html

  23. Splicefinder programs GeneSplicer http://www.cbcb.umd.edu/software/GeneSplicer/gene_spl.shtml Netgene http://www.cbs.dtu.dk/services/NetGene2/

  24. NCBI http://www.ncbi.nlm.nih.gov/ Ensembl http://www.ensemble.org/index.html UCSC http://genome.ucsc.edu/ PolyPhen http://genetics.bwh.harvard.edu/pph2/ SIFT http://sift.jcvi.org/ Mutation taster http://www.mutationtaster.org/ Splice prediction http://www.umd.be/HSF/ http://www.fruitfly.org/seq_tools/splice.html http://www.cbs.dtu.dk/services/NetGene2/ DECIPHER https://decipher.sanger.ac.uk/

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