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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?
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