Conflict of interest: none.
PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders
Version of Record online: 29 JUL 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 9, pages 2134–2147, September 2013
How to Cite
2013. PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. Am J Med Genet Part A 161A:2134–2147., , , , , , , , , , , , , , , , .
Ellen A. Tsai, Micah A. Berman, Laura K. Conlin contributed equally to this work.
- Issue online: 14 AUG 2013
- Version of Record online: 29 JUL 2013
- Manuscript Accepted: 11 APR 2013
- Manuscript Received: 2 NOV 2012
- NIH/NIDCD. Grant Numbers: R01DC005247, R33DC008630, U01HG006546
- Ring Chromosome 20 Foundation Grant. Grant Numbers: T32HG000046, T32DC005363, T32GM008638
Additional supporting information may be found in the online version of this article at the publisher's web-site.
FIG. S1. PECONPI screenshot (file management).
FIG. S2. PECONPI screenshot (group options).
FIG. S3. PECONPI screenshot (score options).
FIG. S4. PECONPI algorithm.
FIG. S5. Distribution of CNVs.
FIG. S6. ROC curves from the known pathogenicity samples, combined.
FIG. S7. ROC curves from the known pathogenicity samples, separated.
FIG. S8. Coverage analysis.
Table SI. PECONPI Subscores, Parameters, and Values
Table SII. Description of the Covariates of the Logistic Regression Model
Table SIII. Choosing Covariates for the Logistic Model
Table SIV. A Sample of the Gene Input File
Table SV. Example of the SNP Input File
Table SVI. Example Sample Input File
Table SVII. Example Controls Input File
Table SVIII. Example Literature Input File
Table SIX. Example of the Optional Special Input File
Table SX. Example of the Optional Bands Input File
Table SXI. Example of the Optional Exclude file
Table SXII. Description of PECONPI Summary
Table SXIII. PECONPI Scores From the CHD Cohort
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