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Variant interpretation through Bayesian fusion of frequency and genomic knowledge
Variant interpretation is a central challenge in genomic medicine. A recent study demonstrates the power of Bayesian statistical approaches to improve interpretation of variants in the context of specific genes and syndromes. Such Bayesian approaches combine frequency (in the form of observed geneti...
Autores principales: | Shaw, Chad A, Campbell, Ian M |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308929/ https://www.ncbi.nlm.nih.gov/pubmed/25632303 http://dx.doi.org/10.1186/s13073-015-0129-3 |
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