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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...

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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Springer US 2015
Fag:
Online adgang: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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