Disease insights through cross-species phenotype comparisons

New sequencing technologies have ushered in a new era for diagnosis and discovery of new causative mutations for rare diseases. However, the sheer numbers of candidate variants that require interpretation in an exome or genomic analysis are still a challenging prospect. A powerful approach is the co...

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Dades bibliogràfiques
Publicat a:Mamm Genome
Autors principals: Haendel, Melissa A., Vasilevsky, Nicole, Brush, Matthew, Hochheiser, Harry S., Jacobsen, Julius, Oellrich, Anika, Mungall, Christopher J., Washington, Nicole, Köhler, Sebastian, Lewis, Suzanna E., Robinson, Peter N., Smedley, Damian
Format: Artigo
Idioma:Inglês
Publicat: Springer US 2015
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4602072/
https://ncbi.nlm.nih.gov/pubmed/26092691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00335-015-9577-8
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