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

共 50 条

[1] High-throughput sequencing to decipher the genetic heterogeneity of deafness
Zippora Brownstein
Yoni Bhonker
Karen B Avraham
Genome Biology, 13
[2] Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
Kenna, Kevin P.
McLaughlin, Russell L.
Byrne, Susan
Elamin, Marwa
Heverin, Mark
Kenny, Elaine M.
Cormican, Paul
Morris, Derek W.
Donaghy, Colette G.
Bradley, Daniel G.
Hardiman, Orla
JOURNAL OF MEDICAL GENETICS, 2013, 50 (11) : 776 - 783
[3] Next-Generation Sequencing to Decipher the Genetic Heterogeneity of Deafness in Palestinian Arab Families
Amal, A. I.
Danial-Farran, N.
Brownstein
Kamal, L.
Gulsuner, S.
Casadei, S.
Walsh, T.
Allon-Shalev, S.
King, M.
Avraham, K. B.
Kanaan, M. N.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 179 - 179
[4] High-Throughput Sequencing and Rare Genetic Diseases
Makrythanasis, P.
Antonarakis, S. E.
MOLECULAR SYNDROMOLOGY, 2012, 3 (05) : 197 - 203
[5] Analysis of 5′ transcript heterogeneity by high-throughput sequencing of cDNA
Pietro D Spanu
Ken Doyle
Nature Methods, 2009, 6 (9) : i - ii
[6] Analysis of 5′ transcript heterogeneity by high-throughput sequencing of cDNA
Pietro D Spanu
Ken Doyle
Nature Methods, 2009, 6 (7) : i - ii
[7] Understanding human genetic variation in the era of high-throughput sequencing
Knight, Julian C.
EMBO REPORTS, 2010, 11 (09) : 650 - 652
[8] Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
Bianca Tesi
Kristina Lagerstedt-Robinson
Samuel C. C. Chiang
Eya Ben Bdira
Miguel Abboud
Burcu Belen
Omer Devecioglu
Zehra Fadoo
Allen E. J. Yeoh
Hans Christian Erichsen
Merja Möttönen
Himmet Haluk Akar
Johanna Hästbacka
Zuhre Kaya
Susana Nunes
Turkan Patiroglu
Magnus Sabel
Ebru Tugrul Saribeyoglu
Tor Henrik Tvedt
Ekrem Unal
Sule Unal
Aysegul Unuvar
Marie Meeths
Jan-Inge Henter
Magnus Nordenskjöld
Yenan T. Bryceson
Genome Medicine, 7
[9] Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
Lopes, Luis R.
Zekavati, Anna
Syrris, Petros
Hubank, Mike
Giambartolomei, Claudia
Dalageorgou, Chrysoula
Jenkins, Sharon
McKenna, William
Plagnol, Vincent
Elliott, Perry M.
JOURNAL OF MEDICAL GENETICS, 2013, 50 (04) : 228 - 239
[10] Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
Tesi, Bianca
Lagerstedt-Robinson, Kristina
Chiang, Samuel C. C.
Ben Bdira, Eya
Abboud, Miguel
Belen, Burcu
Devecioglu, Omer
Fadoo, Zehra
Yeoh, Allen E. J.
Erichsen, Hans Christian
Mottonen, Merja
Akar, Himmet Haluk
Hastbacka, Johanna
Kaya, Zuhre
Nunes, Susana
Patiroglu, Turkan
Sabel, Magnus
Saribeyoglu, Ebru Tugrul
Tvedt, Tor Henrik
Unal, Ekrem
Unal, Sule
Unuvar, Aysegul
Meeths, Marie
Henter, Jan-Inge
Nordenskjold, Magnus
Bryceson, Yenan T.
GENOME MEDICINE, 2015, 7

← 1 2 3 4 5 →