A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

The interpretation of non-coding variants still constitutes a major challenge in the application of whole-genome sequencing in Mendelian disease, especially for single-nucleotide and other small non-coding variants. Here we present Genomiser, an analysis framework that is able not only to score the...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Smedley, Damian, Schubach, Max, Jacobsen, Julius O.B., Köhler, Sebastian, Zemojtel, Tomasz, Spielmann, Malte, Jäger, Marten, Hochheiser, Harry, Washington, Nicole L., McMurry, Julie A., Haendel, Melissa A., Mungall, Christopher J., Lewis, Suzanna E., Groza, Tudor, Valentini, Giorgio, Robinson, Peter N.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5011059/
https://ncbi.nlm.nih.gov/pubmed/27569544
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.07.005
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