Alamut Visual, powered by SOPHiA, is an exploration software application for genomic variations that integrates genomic information from different sources into one consistent and convenient environment. Mastermind is integrated into Alamut Visual.
Congenica is a digital health technology company with the world’s leading clinical decision support platform for accelerated genomic data interpretation. Mastermind is integrated into Congenica’s software.
VarSome, created by Saphetor, is a community-driven project aiming at sharing global expertise on human variants. Saphetor has integrated Mastermind Data into VarSome, VarSome Pro, and VarSome Clinical.
GeneCards, created by LifeMap Sciences, is a searchable, integrated, database of human genes that provides concise genomic related information, on all known and predicted human genes. Mastermind is integrated with GeneCards.
UCSC GENOME BROWSER
The UCSC Genome Browser is developed and maintained by the Genome Bioinformatics Group, a cross-departmental team within the UCSC Genomics Institute. Mastermind is integrated into the UCSC Genome Browser.
Golden Helix provides an end-to-end pipeline for the production, processing, and interpretation of NGS data with seamless scalability between gene panel, whole exome, and whole genomes. Users can also call CNVs from NGS data and apply the ACMG and AMP guidelines for variant classification and clinical reporting. Mastermind is accessible from the VarSeq public data source repository for annotation of users NGS data.
TGex, created by LifeMap Sciences, empowers NGS analysis by highlighting associations between genes and phenotypes, providing supporting evidence for immediate evaluation and automatically generating case reports. Mastermind is integrated into TGex.
varvis, created by Limbus, is cloud-based CE medical device software that allows to process large amounts of NGS data in an automated, standardized and validated way. Mastermind annotations for every variant allow the user to see all available evidence at a glance in varvis.
Diploid is on a mission to provide clinical labs, hospitals and nation-wide sequencing programs with the tools to diagnose every rare disease patient. Its Moon platform is the first software worldwide to use artificial intelligence for rare disease diagnostics. Mastermind is integrated into the Moon platform.
GenomOncology enables real-time decision support for oncologists at the point-of-care and pathologists at the point of sequencing to accelerate oncology and bring about dramatic improvements in patient outcomes. Mastermind is integrated into Molecular Tumor Board and Pathology Workbench.
Fabric Genomics is working to ensure precision medicine is the standard of care for all patients. Mastermind is integrated into Fabric Enterprise genomic analysis and reporting software.
Google Cloud helps healthcare and life sciences organizations engineer a healthier world by making their data accessible, secure, and useful as part of their digital transformation. Mastermind’s Cited Variants Reference is available as a public dataset on BigQuery.
Codified by Codified Genomics allows researchers to rapidly understand genetic variation in their samples. Researchers can quickly and accurately interpret genomic variants using data from a multitude of sources. Mastermind is integrated into Codified.
ENLITER by Breakthrough Genomics is easy to use, validate, and customize. ENLITER’s proprietary technology ranks and prioritizes variants with a high degree of sensitivity enabling clinical labs to improve their diagnostic yields. Mastermind is integrated into ENLITER.
enGenome provides the experience and software technology for the analysis and interpretation of sequencing data in clinical and research settings. Mastermind is integrated into enGenome’s eVai Variant Interpretation platform.
Ensembl is a genome browser for vertebrate genomes that supports research in comparative genomics, evolution, sequence variation and transcriptional regulation. Ensembl annotates genes, computes multiple alignments, predicts regulatory function and collects disease data. Ensembl tools include BLAST, BLAT, BioMart and the Variant Effect Predictor (VEP) for all supported species. Mastermind is integrated into the Variant Effect Predictor.
Genomizer makes it easy to access information about variants from a variety of online resources and tools. Many online tools require different combinations of input (variant nomenclature, transcript, protein change, and genomic coordinates) which Genomizer handles for you. Enter your variant once, and Genomizer will sort out the rest! It also automates the conversion between genomic and transcript coordinates. Mastermind is integrated into Genomizer. Developed by curators, for curators.