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Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases

The recent advent of next-generation sequencing technologies has dramatically changed the nature of biomedical research. Human genetics is no exception-it has never been easier to interrogate human patient genomes at the nucleotide level to identify disease-associated variants. To further facilitate...

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Detalles Bibliográficos
Autores principales: Goh, Gerald, Choi, Murim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korea Genome Organization 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3543920/
https://www.ncbi.nlm.nih.gov/pubmed/23346032
http://dx.doi.org/10.5808/GI.2012.10.4.214