“The ASHG annual meeting will give us an opportunity to reveal some of the lesser known, yet valuable features of Alamut 2.2,” said André Blavier, Founder and CEO of Interactive Biosoftware. “I am looking forward to meeting many of our customers face-to-face. We gather a lot of insightful feedback and suggestions from them, so it will be very interesting to hear more about what they’re working on, how Alamut helps them and areas that they would like more assistance in.”
The 2.2 version of Alamut includes the following new features:
• Visualization of BAM alignments along with called variants from VCF files, for NGS data analysis
• Programmatic control of Alamut: the software now handles requests from external tools through a simple Application Programming Interface (API) based on HTTP
• Integration of variants from the NHLBI GO Exome Sequencing Project (ESP Exome Variant Server)
• Automatic missense predictions from MutationTaster
• Ability to import genomic variants from VCF and tabulated files, in addition to existing cDNA file import
• The splicing module now provides ESE reports, in addition to existing splicing signals prediction reports
• New tracks from BIOBASE's Genome Trax
“Any desktop software, including web browsers, can now invoke Alamut with requests such as: ‘Display gene XYZ!’ or ‘Analyze this variation,” said Francis Wolinski, Chief Technical Officer of IBS.
The upgrade’s advanced NGS alignment viewer can load and visualize BAM alignment files along with called variants in the same graphical interface much more quickly and easily.
“Quality control is critical and visually checking NGS alignments and variants calls has been a growing demand,” said Wolinski.
Alamut has revolutionized the working process for researchers and geneticists. Prior to this software, researchers had to manually gather information from dozens of databases and websites—an extremely tedious and time-consuming process.
“Our industry is at a very exciting stage and we are looking forward to exhibiting at the ASHG and having the opportunity to gather insights into where this dynamic industry is heading,” said Blavier.
The main new features of Alamut HT version 1.1 include annotations from HGMD, the Human Gene Mutation Database, and from ESP, the NHLBI Exome Server Project.
About Alamut: Alamut is a decision-support software and client server application that integrates genetic information from different sources in one convenient environment to describe variants using HGVS nomenclature and help interpret their pathogenic status. Dedicated to mutation diagnostics, Alamut is used by clinical and research molecular laboratories worldwide. Alamut enables researchers to access data without in-house bioinformatics. The data is curated and reliable, and feedback shows that it increases users’ confidence in their reports. Alamut is the software of choice for leading university medical centers, hospitals, and private human genome laboratories. It is currently being used by over 200 entities in 25 countries on five continents around the world.
About Alamut HT: Alamut HT is a high-throughput annotation software for NGS analysis. Designed for intensive variant analysis workflows, this new software enriches raw NGS variants with dozens of attributes including effects on human genes, detailed SNP information, and missense and splicing predictions. Rated as one of the most comprehensive annotation tools by client labs, Alamut-HT is powerful, efficient and the industry leader in splicing predictions with a fast and easy installation process.
About Interactive Biosoftware: