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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Publicado en:Mamm Genome
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: Artigo
Lenguaje:Inglês
Publicado: Springer US 2015
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Article
Acceso en línea: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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