Basic Autosomal Dominant Example: KLHL24 and Generalized Epidermolysis Bullosa Simplex

An example of a basic AD curation with predominantly de novo variants.

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Basic Autosomal Dominant Example: LRP6 and Non-Syndromic Oligodontia

An example of a basic AD curation with variants segregating with disease in families.

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Basic Autosomal Recessive Example: REEP6 and Retinitis Pigmentosa

An example of basic AR curation with variants segregating with disease in families.

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Basic X-linked Example: BGN and Spondyloepimetaphyseal Dysplasia

An example of basic X-linked curation with variants segregating with disease in families.

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Segregation Analysis

An overview of segregation analysis using Version 5 of the Standard Operating Procedure.

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