1 / 1

TCAG New Technologies Seminar Alamut: A Decision Support System for Mutation Interpretation

TCAG New Technologies Seminar Alamut: A Decision Support System for Mutation Interpretation. Date: Tuesday, Sept. 21 Time: 10:30-11:30 AM Location: Room 14-203, MaRS TMDT 101 College St. Speaker: Dr. André Blavier - MD, MSc Interactive Biosoftware.

adelie
Download Presentation

TCAG New Technologies Seminar Alamut: A Decision Support System for Mutation Interpretation

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. TCAG New Technologies Seminar Alamut: A Decision Support System for Mutation Interpretation Date: Tuesday, Sept. 21 Time: 10:30-11:30 AM Location: Room 14-203, MaRS TMDT 101 College St. Speaker:Dr. André Blavier - MD, MSc Interactive Biosoftware Alamut is a software application dedicated to variant interpretation in medical genetics with four complementary functions, data integration from public data sources (i.e. sequences),conservation information, polymorphisms, published mutations, and protein annotations.Visualization of integrated data is represented in a user-friendly graphical environment, designed to apprehend information easily.Variant interpretation assisted by in silico predictions of pathogenicity and splicing effects.Data collection, storage and visualization of variants along with computed and manually-entered annotations.Basically, Alamut is a sophisticated viewer over thousands of annotated human genes, enabling users to enter variations and study their effects on transcription, splicing and translation. Interpretation is assisted by automated access to web-based variant scoring systems (PolyPhen, SIFT, Align GVGD) and by integrated splicing predictions methods (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer).Alamut displays a number of gene-related annotations, including nucleotide-level conservation, SNPs, published mutations collected by HGMD (Human Gene Mutation Database), protein domains, and multiple alignments of orthologues.As the software also generates mutation reports with full HGVS nomenclature, and manages user's own mutation sets, it puts together a very practical working environment for both diagnostic and research labs. Hosted by The Centre for Applied Genomics and the Ontario Genomics Institute TCAG Contact Dr. Richard Wintle (416) 813-7654 ext. 4877 rwintle@sickkids.ca www.tcag.ca OGI Contact Dr. Dennis McCormac (416) 673-6590 dmccormac@ontariogenomics.ca www.ontariogenomics.ca

More Related