Article
Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss.
The journal of applied laboratory medicine - 1 May 2020
Butz Malinda, McDonald Amber, Lundquist Patrick A, Meyer Melanie, Harrington Sean, Kester Sarah, Stein Mariam I, Mistry Nipun A, Zimmerman Zuckerman Eric, Niu Zhiyv, Schimmenti Lisa, Hasadsri Linda, Boczek Nicole J
Abstract excerpt
BACKGROUND: Deafness and hearing loss are common conditions that can be seen independently or as part of a syndrome and are often mediated by genetic causes. We sought to develop and validate a hereditary hearing loss panel (HHLP) to detect single nucleotide variants (SNVs), insertions and deletions (indels), and copy number variants (CNVs) in 166 genes related to nonsyndromic and syndromic hearing loss. METHODS:...
Topics
- Alleles
- Amino Acid Substitution
- Chromosome Mapping
- Computational Biology
- Genetic Association Studies
- Genetic Predisposition to Disease
- Genetic Testing
- Genotype
- Hearing Loss