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