Journal article

Advancing genetic testing for deafness with genomic technology

A Eliot Shearer, E Ann Black-Ziegelbein, Michael S Hildebrand, Robert W Eppsteiner, Harini Ravi, Swati Joshi, Angelica C Guiffre, Christina M Sloan, Scott Happe, Susanna D Howard, Barbara Novak, Adam P DeLuca, Kyle R Taylor, Todd E Scheetz, Terry A Braun, Thomas L Casavant, William J Kimberling, Emily M LeProust, Richard JH Smith

JOURNAL OF MEDICAL GENETICS | BMJ PUBLISHING GROUP | Published : 2013

Abstract

BACKGROUND: Non-syndromic hearing loss (NSHL) is the most common sensory impairment in humans. Until recently its extreme genetic heterogeneity precluded comprehensive genetic testing. Using a platform that couples targeted genomic enrichment (TGE) and massively parallel sequencing (MPS) to sequence all exons of all genes implicated in NSHL, we tested 100 persons with presumed genetic NSHL and in so doing established sequencing requirements for maximum sensitivity and defined MPS quality score metrics that obviate Sanger validation of variants. METHODS: We examined DNA from 100 sequentially collected probands with presumed genetic NSHL without exclusions due to inheritance, previous genetic ..

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University of Melbourne Researchers

Grants

Awarded by NIDCD


Awarded by NHMRC Overseas Biomedical Postdoctoral Training Fellowship


Awarded by NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES


Awarded by NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS


Funding Acknowledgements

This work was supported in part by NIDCD RO1s DC003544, DC002842 and DC012049 to RJHS, as well as NIDCD 1F30DC011674 to AES, and an NHMRC Overseas Biomedical Postdoctoral Training Fellowship (ID 546493) to MSH.