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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2015
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Materias: | |
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 |
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