PECONPI: A Novel Software for Uncovering Pathogenic Copy Number Variations in Non-Syndromic Sensorineural Hearing Loss and Other Genetically Heterogeneous Disorders

This report describes an algorithm developed to predict the pathogenicity of copy number variants (CNVs) in large sample cohorts. CNVs (genomic deletions and duplications) are found in healthy individuals and in individuals with genetic diagnoses, and differentiation of these two classes of CNVs can...

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Hauptverfasser: Tsai, Ellen A, Berman, Micah A, Conlin, Laura K, Rehm, Heidi L, Francey, Lauren J, Deardorff, Matthew A, Holst, Jenelle, Kaur, Maninder, Gallant, Emily, Clark, Dinah M, Glessner, Joseph T, Jensen, Shane T, Grant, Struan FA, Gruber, Peter J, Hakonarson, Hakon, Spinner, Nancy B, Krantz, Ian D
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3745548/
https://ncbi.nlm.nih.gov/pubmed/23897863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36038
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