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What is SOPHiA GENETICS?

Our global network for data sharing generates valuable clinical insights from a variety of data sources, all focused on improving patient outcomes around the world. SOPHiA GENETICS is committed to transforming the landscape of AI-driven medicine. By harmonizing multiple healthcare-omics data types, we are breaking down existing data silos and developing machine learning models that provide insights to assist healthcare professionals in improving patient care. The newly updated interface, accompanied by innovative features and enhanced functionalities, will streamline precision medicine workflows, driving us closer to the goal of making data-informed healthcare available to everyone. Harnessing the strengths of AI and machine learning (ML), our cloud-based platform offers a secure and user-friendly environment for the standardization, computation, and analysis of digital health data, ultimately generating insights from complex multimodal data sets that can significantly enhance diagnostic procedures, treatment options, analytical techniques, and drug development projects. Furthermore, our ongoing advancements underscore our unwavering dedication to fostering innovation within the healthcare industry, ensuring that we remain at the forefront of technological progress. In this evolving landscape, our mission is to empower healthcare providers with the tools necessary to deliver exceptional care to their patients.

What is Genome Analysis Toolkit (GATK)?

Developed by the Data Sciences Platform at the Broad Institute, this all-encompassing toolkit offers a broad spectrum of features that focus largely on variant discovery and genotyping. It boasts a powerful processing engine along with high-performance computing capabilities, making it suitable for handling projects of any size. The GATK is recognized as the gold standard for identifying SNPs and indels in germline DNA as well as RNA sequencing data. Its functionalities are expanding to include detection of somatic short variants, as well as tackling copy number variations (CNV) and structural variations (SV). In addition to the primary variant callers, the GATK features a variety of utilities designed for performing related tasks, such as processing and ensuring the quality of high-throughput sequencing data, and it is complemented by the renowned Picard toolkit. Initially tailored for exome and whole genome data produced by Illumina sequencing technologies, these tools exhibit enough flexibility to adapt to various other sequencing technologies and study designs. As the field of genomics continues to advance, the GATK's versatility guarantees its ongoing relevance in a wide range of genomic research projects, ensuring that it remains a pivotal resource for scientists exploring genetic variations.

Media

Media

Integrations Supported

Docker

Integrations Supported

Docker

API Availability

Has API

API Availability

Has API

Pricing Information

Pricing not provided.
Free Trial Offered?
Free Version

Pricing Information

Free
Free Trial Offered?
Free Version

Supported Platforms

SaaS
Android
iPhone
iPad
Windows
Mac
On-Prem
Chromebook
Linux

Supported Platforms

SaaS
Android
iPhone
iPad
Windows
Mac
On-Prem
Chromebook
Linux

Customer Service / Support

Standard Support
24 Hour Support
Web-Based Support

Customer Service / Support

Standard Support
24 Hour Support
Web-Based Support

Training Options

Documentation Hub
Webinars
Online Training
On-Site Training

Training Options

Documentation Hub
Webinars
Online Training
On-Site Training

Company Facts

Organization Name

SOPHiA GENETICS

Date Founded

2011

Company Location

Switzerland

Company Website

www.sophiagenetics.com

Company Facts

Organization Name

Broad Institute

Company Location

United States

Company Website

gatk.broadinstitute.org/hc/

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