Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss

BACKGROUND: Hearing loss (HL) is the most common disability of human senses characterized by a great allelic heterogeneity. GJB2 and TMPRSS3 are two well-known HL genes typically underlying its monogenic form. Recently, TMPRSS3/GJB2 digenic inheritance has been proposed. As results of genetic testin...

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Detalles Bibliográficos
Autores principales: Ołdak, Monika, Lechowicz, Urszula, Pollak, Agnieszka, Oziębło, Dominika, Skarżyński, Henryk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694500/
https://www.ncbi.nlm.nih.gov/pubmed/31412945
http://dx.doi.org/10.1186/s12967-019-2018-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694500/
https://www.ncbi.nlm.nih.gov/pubmed/31412945
http://dx.doi.org/10.1186/s12967-019-2018-9

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