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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Detalhes bibliográficos
Publicado no:Mamm Genome
Main Authors: 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
Idioma:Inglês
Publicado em: Springer US 2015
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Article
Acesso em linha: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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