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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602072/
https://www.ncbi.nlm.nih.gov/pubmed/26092691
http://dx.doi.org/10.1007/s00335-015-9577-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602072/
https://www.ncbi.nlm.nih.gov/pubmed/26092691
http://dx.doi.org/10.1007/s00335-015-9577-8

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