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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]...

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Family Trio Analysis

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...

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ACMG Rules

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...

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