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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: 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
Sprog:Inglês
Udgivet: 2013
Fag:
Article
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker