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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Vydáno v:Mamm Genome
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer US 2015
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Article
On-line přístup: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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