Interpreting the clinical significance of combined variants in multiple recessive disease genes: Systematic investigation of Joubert Syndrome yields little support for oligogenicity

PURPOSE: Next generation sequencing (NGS) often identifies multiple rare predicted-deleterious variants (RDVs) in different genes associated with a recessive disorder in a given patient. Such variants have been proposed to contribute to digenicity/oligogenicity or “tri-allelism”, or to act as geneti...

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Vydáno v:Genet Med
Hlavní autoři: Phelps, Ian G., Dempsey, Jennifer C., Grout, Megan E., Isabella, Christine R., Tully, Hannah M., Doherty, Dan, Bachmann-Gagescu, Ruxandra
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5797514/
https://ncbi.nlm.nih.gov/pubmed/28771248
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.94
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