Exomiser analysis available

What is Exomiser? Taken from the website: "The Exomiser is a tool that finds potential disease-causing variants from whole-exome/genome data. Starting from a VCF file and a set of phenotypes encoded using the Human Phenotype Ontology (HPO) it will annotate, filter and prioritise likely causative variants. The program does this based on user-defined criteria such as a variant's predicted pathogenicity, frequency of occurrence in a population and also how closely the given phenotype matches the known phenotype of diseased genes from human and model organism data. " Our tests indicate that Exomiser is able to rank the correct gene, In the top spot #1, 52% of the time. In the top 5, 78% of the time. In the top 10, 91% of the time. How to use? Download the attachment, Unzip/decompress the attachment, Open the file ending with HTML or TSV, The genes are listed from highest ranking downwards. Currently we use some default settings in exomiser, but it can be re-analyzed using some more specific criteria to produce better results. What's important is that the 'clinical diagnosis' is captured in our Patient database so that Exomiser can do the phenotype+genotype analysis. Exomiser results are available for download through the web-portal in the 'datasets' section for newly imported results provided that the clinical diagnosis is available.


Popular posts from this blog

Login Changes: Australian Access Federation integration

Gene interactions - Genes don't work in isolation, and your gene lists shouldn't either