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

Tsai, Ellen A

PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. [electronic resource] - American journal of medical genetics. Part A Sep 2013 - 2134-47 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural

1552-4833

10.1002/ajmg.a.36038 doi


DNA Copy Number Variations
Extracellular Matrix Proteins--genetics
Gene Deletion
Genomics--methods
Genotype
Hearing Loss, Sensorineural--genetics
Heart Defects, Congenital--genetics
Humans
In Situ Hybridization, Fluorescence
Polymorphism, Single Nucleotide
Reproducibility of Results
Software