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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Veröffentlicht in:Am J Hum Genet
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2019
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Article
Online Zugang: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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