Familial filters help you hone in on the variant of interest.
By using the known affected and unaffected status of a group of closely related people, familial filters are able to rapidly discard large amounts of variants that are unlikely to be disease-causing in affected members.
Heterozygous dominant
The heterozygous dominant analysis type searches for variants where an affected parent and unaffected parent give rise to an affected child. This is caused by the passage of a heterozygous genotype from the affected parent to affected children.
All variants will be returned where affected individuals have a heterozygous genotype and all unaffected individuals do not have a heterozygous genotype (i.e. homozygous reference or homozygous alternate).
This analysis is equivalent to autosomal dominant if searching within the autosome and to X-linked dominant if searching within the X chromosome.
Examples
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Homozygous/hemizygous recessive
The homozygous recessive analysis type searches for variants where two unaffected parents with heterozygous genotypes give rise to a homozygous alternate genotype in affected children.
All variants will only be returned where all affected individuals have a homozygous alternate genotype and all unaffected individuals do not have a homozygous alternate genotype (i.e. heterozygous or homozygous reference). Homozygous reference genotypes are allowed because unaffected siblings can have this genotype if both parents are heterozygous.
This analysis is equivalent to autosomal recessive if searching within the autosome and to X-linked recessive if searching within the X chromosome.
Examples
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Compound heterozygous
The compound heterozygous analysis type is gene-centric and searches for a scenario where at least two separate (i.e. different genomic positions) heterozygous variants in the same gene in unaffected parents are both transmitted to an affected child on different strands.
All variants will be returned for a gene where affected individuals all share a heterozygous genotype and for one position in a gene one unaffected individual shares this heterozygous genotype with the affecteds and in another position another unaffected individual shares the heterozygous genotype with the converse not being true.
Examples
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De novo dominant
The de novo dominant analysis type searches for a non-mendelian inheritance pattern where a mutation arises spontaneously within affected individuals and the causative allele is not present in any unaffected individual. Affected individuals therefore share a heterozygous variant that is not present in unaffected individuals and could not arise through mendelian inheritance.
All variants will be returned where all affected individuals share a heterozygous variant and all unaffected individuals either share a homozygous reference or homozygous alternate genotype.
Examples
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