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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Enregistré dans:
Détails bibliographiques
Publié dans:J Med Genet
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: 2014
Sujets:
Article
Accès en ligne: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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