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.

引用

页数：9

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