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PHENOSYSTEMS.COM

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Phenosystems develops software in the area of genetics and genomics for medical and veterinary applications.

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Home page | phenosystems.com Reviews
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Phenosystems develops software in the area of genetics and genomics for medical and veterinary applications.
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4 sequencing
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Home page | phenosystems.com Reviews

https://phenosystems.com

Phenosystems develops software in the area of genetics and genomics for medical and veterinary applications.

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1

Splice prediction tools

http://www.phenosystems.com/www/index.php/links-to-various-tools-and-information/splice-prediction-tools

Wednesday, 31 August 2016. P3RED: Crédit d'Impôt Recherche. You can find here a collection of various splice prediction tools. You might want to check out as well our documents and guideline section as it contains reports about the use of those tools. You are also welcome to propose to add tools to below list, just contact us! Fruit Fly Splice Predictor. Fruit fly and human splice predictor. Directly callable from our sequencing software Gensearch. RegRNA: A Regulatory RNA Motifs and Elements Finder.

2

eMLPA

http://www.phenosystems.com/www/index.php/products/emlpa

Wednesday, 31 August 2016. P3RED: Crédit d'Impôt Recherche. EMLPA has been developed by the Charles University in Prague and has been announced at the ESHG Barcelona, 2008. The basic software is available online and free for academic use. We are partnering up with Charles University in order to develop further commercial added value modules based on user requirements (e.g. PDF reporting, export in specific formats).

3

Documents and guidelines

http://www.phenosystems.com/www/index.php/links-to-various-tools-and-information/documents-and-guidelines

Wednesday, 31 August 2016. P3RED: Crédit d'Impôt Recherche. Documents, publications and ontologies. You can find here relevant documents, publications for diagnostics laboratories. Please contact us if you have any reports or documents that would help your colleagues, we will post them here! Guidelines of the CMGS (Clinical Molecular Genetics Society), there is also a guideline relating to unclassified variants. This is the updated version which was approved in September 2013. HPO Human Phenotype Ontology.

4

HIV tools

http://www.phenosystems.com/www/index.php/links-to-various-tools-and-information/hiv-tools

Wednesday, 31 August 2016. P3RED: Crédit d'Impôt Recherche. Bioinformatics tools for HIV. Allows to identify strains of HIV with BLAST. Directly callable from our HIV sequencing software GensearchHIV. WebPSSM is a bioinformatic tool for predicting HIV-1 coreceptor usage from the amino acid sequence of the third variable loop (V3) of the envelope gene. Directly callable from our HIV sequencing software GensearchHIV. REGA HIV-1 and 2 Automated Subtyping Tool. Geno2pheno [coreceptor] 2.5.

5

Other prediction tools

http://www.phenosystems.com/www/index.php/links-to-various-tools-and-information/other-prediction-tools

Wednesday, 31 August 2016. P3RED: Crédit d'Impôt Recherche. SM2PH Central (from Structural Mutation to Pathology Phenotypes in Human - Knowledgebase) gathers proteins involved in human genetic diseases and provides for each of them a combined evolutionary and structural view coupled to mutation and phenotypic data. In-Silico PCR searches a sequence database with a pair of PCR primers. It uses an indexing strategy to do this quickly. Mutalyzer HGVS nomenclature checker. PredictProtein integrates feature p...

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Home page

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phenote.org phenote.org

Phenote: A Phenotype Annotation Tool Using Ontologies

Get the source code. Ontology Lookup Service (OLS). Bug reports / feature requests. Phenote is both a complete piece of software and a software toolkit designed to facilitate the annotation of biological phenotypes using ontologies. Annotations recorded by Phenote are based on the EQ model. For representing phenotypes, combining entities from any ontology with qualities (such as PATO). Type-ahead-suggest (autocompletion) for terms within ontologies. Use of any OBO-format ontology (or OWL- OBO converted).

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