PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.

doi:10.1002/ajmg.a.36038

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Article

PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.

American journal of medical genetics. Part A - 1 Sept 2013

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 F A, Gruber Peter J, Hakonarson Hakon, Spinner Nancy B, Krantz Ian D

Abstract excerpt

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 be challenging and usually requires extensive manual curation. We have developed PECONPI, an algorithm to assess...

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Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Gene Deletion

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Identifiers

PMID: 23897863
DOI: 10.1002/ajmg.a.36038
PMCID: PMC3745548

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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