Mastermind Video Tutorials

Informative Walkthroughs of the Mastermind Genomic Search Engine

GETTING STARTED

How to sign up for Mastermind and create your user account

MASTERMIND TUTORIAL

Full Mastermind training video and use cases

Mastermind Professional Edition Search Examples

ACMG/AMP FILTERING AND SUPPLEMENTAL DATA

What do we know about genetic variants inherited as germline mutations?

VIEWING ALTERNATIVE NOMENCLATURES

Is an intronic variant in a particular gene novel?

PHENOTYPE, GENE, AND VARIANT

How are specific genes and phenotypes associated?

FUSION GENES

Which fusion genes are associated with somatic cancers?

SEARCHING GENES BY PHENOTYPE

Which genes are associated with a specific phenotype?

THERAPY, DISEASE, AND GENES

Which therapies are currently used for genetically-driven diseases?

EXPLORING NOVEL VARIANTS

What do I do if a variant can’t be found in Mastermind?
How can I create alerts for me and my team?

LOSS OF FUNCTION VARIANTS AND PHENOTYPE FILTERING

Which loss-of-function mutations in a gene are associated with a specific phenotype?

Copy Number Variation (CNV) Search Examples

SEARCHING A CNV BY GENOMIC COORDINATES AND PHENOTYPE

Is a chromosomal gain associated with a specific phenotype?

EXPLORING INTRAGENIC CNVs

For a particular gene, what is known about a specific exon deletion?

BOOLEAN SEARCH FOR CNV LOSSES AND GAINS

What do we know about both losses and gains of specific CNVs?

INTRAGENIC SOMATIC CNVs

Which gene deletions are associated with certain cancers?

CNV SEARCH BY CYTOBAND

SEARCH BY GENOMIC COORDINATES

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