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Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy

Assessing the significance of novel genetic variants revealed by DNA sequencing is a major challenge to the integration of genomic techniques with medical practice. Many variants remain difficult to classify by traditional genetic methods. Computational methods have been developed that could contrib...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Jordan, Daniel M., Kiezun, Adam, Baxter, Samantha M., Agarwala, Vineeta, Green, Robert C., Murray, Michael F., Pugh, Trevor, Lebo, Matthew S., Rehm, Heidi L., Funke, Birgit H., Sunyaev, Shamil R.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2011
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3035712/
https://ncbi.nlm.nih.gov/pubmed/21310275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.01.011
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