A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

Exome sequencing of parent-offspring trios is a popular strategy for identifying causative genetic variants in children with rare diseases. This method owes its strength to the leveraging of inheritance information, which facilitates de novo variant calling, inference of compound heterozygosity, and...

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Detalles Bibliográficos
Autores principales: King, Daniel A., Fitzgerald, Tomas W., Miller, Ray, Canham, Natalie, Clayton-Smith, Jill, Johnson, Diana, Mansour, Sahar, Stewart, Fiona, Vasudevan, Pradeep, Hurles, Matthew E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2014
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975066/
https://www.ncbi.nlm.nih.gov/pubmed/24356988
http://dx.doi.org/10.1101/gr.160465.113

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975066/
https://www.ncbi.nlm.nih.gov/pubmed/24356988
http://dx.doi.org/10.1101/gr.160465.113

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