High-throughput sequencing to decipher the genetic heterogeneity of deafness

被引：24
|
作者：
Brownstein, Zippora [1 ]
Bhonker, Yoni [1 ]
Avraham, Karen B. [1 ]
机构：
[1] Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, IL-69978 Tel Aviv, Israel
来源：
GENOME BIOLOGY | 2012年 / 13卷 / 05期
基金：
美国国家卫生研究院;
关键词：
Genomics; deep sequencing; massive parallel sequencing; next-generation sequencing; exome sequencing; homozygosity mapping; hearing loss; SENSORINEURAL HEARING-LOSS; CAUSE OVARIAN DYSGENESIS; GENOMIC CAPTURE; MUTATIONS; PROTEIN; DNA; IMPAIRMENT; SOCIETY; SCIENCE; ATAXIA;
D O I：
10.1186/gb-2012-13-5-245
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
Identifying genes causing non-syndromic hearing loss has been challenging using traditional approaches. We describe the impact that high-throughput sequencing approaches are having in discovery of genes related to hearing loss and the implications for clinical diagnosis.
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页数：9
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