New Software from SOPHiA GENETICS Now Features a Full Genome Browser

Press Release Summary:

SOPHiA GENETICS’ new genome software enables researchers to easily assess the pathogenic status of human alterations. It is user friendly and graphically displays complex genomic information gathered from various curated sources and prediction algorithms. The software features ACMG/AMP classification, 3D protein visualization, Sanger electropherogram visualization and new splicing predictions. Working together with the SOPHiA AI platform and this software, geneticists can precisely identify and fully explore variants associated with hereditary disorders and cancer. This is helpful for large gene panels, full exomes, and genomes, where a large number of newly detected genomic variants and variants of unknown significance (VUS) are identified.

Original Press Release:

SOPHiA GENETICS Presents Alamut Genova, the Latest Evolution of the Alamut Software for Genomic Variant Exploration

SAN DIEGO, October 17, 2018 /PRNewswire/ --

SOPHiA GENETICS, leader in Data-Driven Medicine, has announced today from the annual meeting of the American Society of Human Genetics (ASHG), the release of Alamut Genova, the advanced variant exploration software for genomic data visualization and interpretation.

Alamut Genova is the latest evolution of Alamut Visual, already trusted by over 500 healthcare institutions worldwide. The powerful new decision-support technology, Alamut Genova is now a full genome browser, further enabling clinical researchers to easily assess the pathogenic status of human alterations. The software graphically displays complex genomic information, integrated from various curated sources and prediction algorithms in one user-friendly environment.

This new version has been redesigned to empower geneticists to solve complex genomic interpretation cases more intuitively. Alamut Genova offers a series of novel and efficient features, including ACMG/AMP classification, 3D protein visualization, Sangerelectropherogram visualization and new splicing predictions that complete the existing solution.

Combining the analytical power of SOPHiA AI platform with the advanced visualization software Alamut Genova, geneticists can now benefit from a comprehensive solution to precisely identify and fully explore variants associated with hereditary disorders and cancer. SOPHiA accurately detects and annotates all types of alterations and redirects complex variants to Alamut Genova in order to assess them in the exact genomic context. This is particularly impactful for large gene panels, full exomes and genomes, where a large number of newly detected genomic variants and variants of unknown significance (VUS) are identified.

André Blavier, Scientific Director at SOPHiA GENETICS, said: "The combined use of SOPHiA and Alamut Genova provides clinical researchers with a unique and complete solution, supporting them all the way from precise genomic variant detection to proper interpretation. This new release marks a step forward in increasing experts' adoption of Data-Driven Medicine."

About SOPHiA GENETICS 

Leader in Data-Driven Medicine, SOPHiA GENETICS is a health tech company which has developed SOPHiA AI, the advanced technology for genomic analysis, helping healthcare professionals to make sense of the large amount of genomic data. SOPHiA GENETICS is democratizing Data-Driven Medicine by enabling the rapid adoption of genomic testing worldwide, turning data into actionable clinical insights, and sharing knowledge through its community. The company's achievements and innovative approach are recognized by MIT Technology Review's "50 Smartest Companies 2017" and Fast Company's "Most Innovative Companies 2018." More info: http://www.sophiagenetics.com.

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For media and journalist inquiries, please contact the SOPHiA GENETICS media relations team by either email or telephone:
tdlala@sophiagenetics.com, +41-78-822-29-28