1. Bioinformatics

2. 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/

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

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

15. Assembly converter

16. http://genome.ucsc.edu/

19. Assembly converter

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

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

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

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

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

28. http://scholar.google.be

29. http://sift.jcvi.org/

30. CFTR: p.N1303K

32. Polyphen http://genetics.bwh.harvard.edu/pph2/

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

35. But beware……!!!!! There are many examples of known pathogenic variants predicted to be benign and vice versa

36. Human Splicing Finder http://www.umd.be/HSF/

37. Splice Site Prediction http://www.fruitfly.org/seq_tools/splice.html

38. Splice finder programs GeneSplicer http://www.cbcb.umd.edu/software/ GeneSplicer/gene_spl.shtml Netgene http://www.cbs.dtu.dk/services/Net Gene2/

39. NCBIhttp://www.ncbi.nlm.nih.gov/ Ensemblhttp://www.ensemble.org/index.html UCSChttp://genome.ucsc.edu/ PolyPhenhttp://genetics.bwh.harvard.edu/pph2/ SIFThttp://sift.jcvi.org/ Mutation tasterhttp://www.mutationtaster.org/ Splice predictionhttp://www.umd.be/HSF/ http://www.fruitfly.org/seq_tools/splice.html http://www.cbs.dtu.dk/services/NetGene2/ DECIPHERhttps://decipher.sanger.ac.uk/