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Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project

Although genome sequencing is increasingly available in clinical and research settings, many questions remain about the interpretation of sequencing data. In the MedSeq Project, we explored how much effort is required to evaluate and report on more than 4,500 genes reportedly associated with monogen...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Machini, Kalotina, Ceyhan-Birsoy, Ozge, Azzariti, Danielle R., Sharma, Himanshu, Rossetti, Peter, Mahanta, Lisa, Hutchinson, Laura, McLaughlin, Heather, Green, Robert C., Lebo, Matthew, Rehm, Heidi L.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6612528/
https://ncbi.nlm.nih.gov/pubmed/31256874
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.05.017
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