TY - JOUR
T1 - Genomic advances for gene discovery in hereditary hearing loss
AU - Avraham, Karen B.
AU - Kanaan, Moien
N1 - Funding Information:
Research in the Avraham and Kanaan laboratories for human genomics research is funded by the National Institutes of Health (National Institute on Deafness and Other Communication Disorders) R01DC011835. We thank Daphne Karfunkel for creating Figure 1.
PY - 2012/9
Y1 - 2012/9
N2 - High-throughput sequencing is changing the face of genetic diagnosis and counseling. While in the past, it would take on average 1 to 5 years to identify a mutation leading to deafness, today, the genetic basis for deafness can be determined within months in a child or adult with inherited hearing loss. Obstacles and challenges still remain, but the field is changing at a dramatic rate, making gene discovery a much easier and more efficient task than in the past.
AB - High-throughput sequencing is changing the face of genetic diagnosis and counseling. While in the past, it would take on average 1 to 5 years to identify a mutation leading to deafness, today, the genetic basis for deafness can be determined within months in a child or adult with inherited hearing loss. Obstacles and challenges still remain, but the field is changing at a dramatic rate, making gene discovery a much easier and more efficient task than in the past.
KW - Consanguineous
KW - Deafness
KW - Homozygosity mapping
KW - Massively parallel sequencing
KW - Next-generation sequencing
UR - http://www.scopus.com/inward/record.url?scp=84867799233&partnerID=8YFLogxK
U2 - 10.1515/jbcpp-2012-0033
DO - 10.1515/jbcpp-2012-0033
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AN - SCOPUS:84867799233
SN - 0792-6855
VL - 23
SP - 93
EP - 97
JO - Journal of Basic and Clinical Physiology and Pharmacology
JF - Journal of Basic and Clinical Physiology and Pharmacology
IS - 3
ER -