Clinical Genomic Database (CGD) Clinical Genomic Database (CGD), is a manually curated database of conditions with known genetic causes, focusing on medically necessary genetic data with available interventions. All conditions with identified genetic causes are...
Massive Analyser Help Posts
At Massive Bioinformatics, we provide you with the latest insights and resources in bioinformatics. Explore this category to find valuable content that helps you transform complex data into actionable insights. We’re here to support your research and innovations.
External Links for Variants
External links can be used as valuable tools to pass through between different useful sources. Different sources links are utilized as external links in this application. These are: VarSome [1] Franklin [2] ClinVar [3] dbSNP [4] HGNC [5] Uniprot [6] COSMIC[7]...
Compatible sequencers with Massive Analyser
Sequencing machines are scientific devices that aid in the automation of the DNA sequencing process. In sequencing technology, there are various types of sequencing devices. Each device has its own DNA sequencing methods. Our system currently supports two sequencing...
Compatible Kits with Massive Analyser
Our system supports the kits listed below: 1. Twist 1.1. Twist Comprehensive Exome Panel [1] Exome sequencing has become a widely used practice in clinics and diagnostics. To meet this need, the content of the Twist Human Nucleus Exome has been designed to cover...
Family Trio Analysis
NGS technology of family trio analysis offers a powerful approach for identifying causal variations for inherited diseases. Trio analysis can identify variants inherited from the parents. For example, if a variant appears only in the mother, and the father and child...
ACMG Rules
In 2013, ACMG group members came together to develop a recommendation for using standard terminology for classifying variants using applicable rules. Different rules/criteria are assigned to classify variants bearing the said rule's feature. As mentioned below, each...