A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data

MOTIVATION: Next generation sequencing technology considerably changed the way we screen for pathogenic mutations in rare Mendelian disorders. However, the identification of the disease-causing mutation amongst thousands of variants of partly unknown relevance is still challenging and efficient tech...

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Detalles Bibliográficos
Autores principales: Heinrich, Verena, Kamphans, Tom, Mundlos, Stefan, Robinson, Peter N, Krawitz, Peter M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408770/
https://www.ncbi.nlm.nih.gov/pubmed/27565584
http://dx.doi.org/10.1093/bioinformatics/btw550

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408770/
https://www.ncbi.nlm.nih.gov/pubmed/27565584
http://dx.doi.org/10.1093/bioinformatics/btw550

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