Embark on a journey into the realm of AI plugins through our dedicated blog series. As we delve into the intricacies of these intelligent add-ons, discover how they redefine the landscape of software development and digital experiences. From streamlining workflows to introducing advanced functionalities, these articles aim to illuminate the transformative impact of AI plugins across various industries. Whether you’re a developer, business owner, or simply curious about the latest innovations, join us in exploring the powerful synergy between artificial intelligence and the evolution of software enhancements.

About us | Advertise with us | Contact us


Posted: 1 June 2017 | Niamh Marriott (Drug Target Review) | No comments yet
SOPHiA AI demystifies the secrets of the exome, home to 85% of disease-causing genetic variants. Clinicians can now get highly accurate results to diagnose patients for rare hereditary disorders.
Sophia Genetics, global leader in Data-Driven Medicine, announced the release of its Whole Exome Solution (WES) and Clinical Exome Solution (CES).
Accessible through Sophia DDM, the company’s analytical platform for clinical diagnostic, these solutions are powered by new knowledge-driven DNA sample preparation kits, which allow clinicians to fully leverage the power of SOPHiA Artificial Intelligence (AI) to get access to broader, deeper and more meaningful clinical insights.
Today, only 25% of rare diseases are accurately diagnosed. With SOPHiA’s applications for exome analysis, this is set to change. The exome is the protein-coding region of the human genome, which represents just 1% of the genome but contains approximately 85% of known disease-causing genetic variants.
SOPHiA takes exome sequencing to new heights, allowing for unmatched analytical performances to detect and annotate disease-related genetic variants over all protein-coding regions of the human genome.
Exome sequencing generates large amounts of sequenced data. The problem is that reporting variants depends on the algorithms used to sift through this data, leading to a substantial discordance in variants description between the different annotation tools and their descriptions in functional and clinical databases.
Consequently, clinicians can confound variant matching which is a critical step in variant classification. SOPHiA now overcomes variant annotation tools’ limitations by annotating variants in a way that helps clinicians better interpret genomic data and achieve more accurate and precise clinical care. Based on pattern-recognition technologies, SOPHiA features a database search engine that guarantees the identification and retrieval of the matching variants regardless of their representations, such as Indels (insertion or the deletion of bases in the DNA) aligned differently, or complex variants.
Variants interpretation is one of the most complex challenges in exome sequencing. But this is also an area where AI can deliver superior insights. SOPHiA processes raw genomic data to detect, annotate, and pre-classify variants to facilitate and accelerate clinician’s decisions. Through SOPHiA, knowledge silos are broken in a collective effort to democratise diagnosis of rare genetic disorders.
Being already used by over 830 experts (i.e. biologists, pathologists, and geneticists) across 285 hospitals, SOPHiA’s unique approach to knowledge sharing makes the experience of an expert in one hospital scalable for the diagnosis of patients in other hospitals. In fact, the more variant interpretations are performed, the more SOPHiA is trained, and the better genetic variants are pre-classified according to the disease types. With the steady increase of both clinically relevant genes and genetic variants to consider in diagnostic, this technology is a now must to help ensure all patients are being diagnosed at the same level, no matter their location.
Dr Reinhard Hiller from the Centre for Proteomic and Genomic Research Artisan Biomed Laboratory based in Cape Town, South Africa, explained how WES helps save precious time and resources, “Sophia Genetics’ Whole Exome Solution (WES) serves as an excellent benchmark for our laboratory as it detects and validates a more comprehensive variant list. Sophia DDM analytical platform is user-friendly and easy to navigate, making it possible for a user to be hands-on from benchtop to variant calling”.
In less than three years, SOPHiA has made genomics for routine clinical diagnostic a reality in over 285 hospitals from 50 countries across the globe.
Using AI and leveraging knowledge-sharing to create a collective intelligence, Sophia Genetics continues its mission to democratise Data-Driven Medicine. With faster, more affordable, and more accurate results, the AI-powered exome solutions by Sophia Genetics represent the next frontier in Data-Driven Medicine, and the most efficient diagnostics tool for clinicians faced with unclear phenotypic data.
Related topics
Analysis, Artificial Intelligence, Informatics, Internet of Medical Things, Sequencing
Related organisations
Sophia Genetics
Related people
Dr Reinhard Hiller
By Niamh Marriott (Drug Target Review)
1 June 2017
No comments yet
Analysis, Artificial Intelligence, Informatics, Internet of Medical Things, Sequencing
Sophia Genetics
Dr Reinhard Hiller
All subscriptions include online membership, giving you access to the journal and exclusive content.
By Analytik Jena
By Drug Target Review
By Izzy Wood (Drug Target Review)
By Ellen Capon (Drug Target Review)
By Taylor Mixides (Drug Target Review)
Your email address will not be published. Required fields are marked *
Comment *
Name *
Email *
Website


Δ
This site uses Akismet to reduce spam. Learn how your comment data is processed.
Write for us | Advertise with us
T: +44 (0)1959 563311
F: +44 (0)1959 563123

Drug Target Review is published by:
Russell Publishing Ltd.
Court Lodge
Hogtrough Hill
Brasted, Kent, TN16 1NU
United Kingdom
© Russell Publishing Limited, 2010-2024. All rights reserved. Terms & Conditions | Privacy Policy | Cookie Policy
Website development by e-Motive Media Limited.
This website uses cookies to improve your experience while you navigate through the website. Out of these cookies, the cookies that are categorised as “Necessary” are stored on your browser as they are as essential for the working of basic functionalities of the website. For our other types of cookies “Advertising & Targeting”, “Analytics” and “Performance”, these help us analyse and understand how you use this website. These cookies will be stored in your browser only with your consent. You also have the option to opt-out of these different types of cookies. But opting out of some of these cookies may have an effect on your browsing experience. You can adjust the available sliders to ‘Enabled’ or ‘Disabled’, then click ‘Save and Accept’. View our Cookie Policy page.
Necessary cookies enable the core functionality of the website, including security, network management and accessibility. These cookies do not store any personal information. You may disable these by changing your browser settings, but this may affect how the website functions.

Advertising and targeting cookies help us provide our visitors with relevant ads and marketing campaigns.

Analytics cookies collect information about your use of the content, and in combination with previously collected information, are used to measure, understand, and report on your usage of this website.

Performance cookies include cookies that deliver enhanced functionalities of the website, such as caching. These cookies do not store any personal information.

source