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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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Pubblicato in:Bioinformatics
Autori principali: Heinrich, Verena, Kamphans, Tom, Mundlos, Stefan, Robinson, Peter N, Krawitz, Peter M
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5408770/
https://ncbi.nlm.nih.gov/pubmed/27565584
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btw550
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