Computation of ancestry scores with mixed families and unrelated individuals.
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DOI: 10.1111/biom.12708
Abstract: The issue of robustness to family relationships in computing genotype ancestry scores such as eigenvector projections has received increased attention in genetic association, and is particularly challenging when sets of both unrelated individuals and closely… read more here.
Keywords: computation ancestry; unrelated individuals; family; scores mixed ... See more keywords
Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report
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DOI: 10.1186/s12883-019-1489-x
Abstract: BackgroundWe encountered two unrelated individuals suffering from neurological disorders, including epilepsy and scoliosis.Case presentationWhole-exome sequencing identified the same recurrent, de novo, pathogenic variant in NUS1 [NM_138459.4:c.691 + 1C > A] in both individuals. This variant is located in the… read more here.
Keywords: unrelated individuals; scoliosis case; splice donor; scoliosis ... See more keywords