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GENOME-SCALE SEQUENCING TO IDENTIFY GENES INVOLVED IN MENDELIAN DISORDERS

The analysis of genome-scale sequence data can be defined as the interrogation of a complete set of genetic instructions in a search for individual loci that produce or contribute to a pathological state. Bioinformatic analysis of sequence data requires sufficient discriminant power to find this nee...

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Detalles Bibliográficos
Autores principales: Markello, Thomas C, Adams, David R
Formato: Artigo
Lenguaje:Inglês
Publicado: 2013
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3959778/
https://ncbi.nlm.nih.gov/pubmed/24510651
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/0471142905.hg0613s79
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