Bioinformatics

Sequence information Mapping information Phenotypic information Literature Prediction programs -Gene prediction -Promotor prediction -Functional prediction -Structural prediction -Variant annotation

Genome browsers ENSEMBL: UCSC :

Assembly converter

Assembly converter

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

CFTR: p.N1303K

Polyphen

Mutation Taster

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

Human Splicing Finder

Splice Site Prediction

Splice finder programs GeneSplicer GeneSplicer/gene_spl.shtml Netgene Gene2/

NCBIhttp:// Ensemblhttp:// UCSChttp://genome.ucsc.edu/ PolyPhenhttp://genetics.bwh.harvard.edu/pph2/ SIFThttp://sift.jcvi.org/ Mutation tasterhttp:// Splice predictionhttp:// DECIPHERhttps://decipher.sanger.ac.uk/