Genomewide significance testing of variation from single case exomes

Standard techniques from genetic epidemiology are ill-suited to formally assess the significance of variants identified from a single case. We developed a statistical inference framework for identifying unusual functional variation from a single genome, what we refer to as the “n-of-one” problem. Us...

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Detalles Bibliográficos
Autores principales: Wilfert, Amy B., Chao, Katherine R., Kaushal, Madhurima, Jain, Sanjay, Zöllner, Sebastian, Adams, David R., Conrad, Donald F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5127779/
https://www.ncbi.nlm.nih.gov/pubmed/27776118
http://dx.doi.org/10.1038/ng.3697

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5127779/
https://www.ncbi.nlm.nih.gov/pubmed/27776118
http://dx.doi.org/10.1038/ng.3697

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