Clinical interpretation of CNVs with cross-species phenotype data

BACKGROUND: Clinical evaluation of CNVs identified via techniques such as array comparative genome hybridisation (aCGH) involves the inspection of lists of known and unknown duplications and deletions with the goal of distinguishing pathogenic from benign CNVs. A key step in this process is the comp...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Köhler, Sebastian, Schoeneberg, Uwe, Czeschik, Johanna Christina, Doelken, Sandra C, Hehir-Kwa, Jayne Y, Ibn-Salem, Jonas, Mungall, Christopher J, Smedley, Damian, Haendel, Melissa A, Robinson, Peter N
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4501634/
https://ncbi.nlm.nih.gov/pubmed/25280750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2014-102633
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