Cargando…

Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family

BACKGROUND: The genetic heterogeneity of sensorineural hearing loss is a major hurdle to the efficient discovery of disease-causing genes. We designed a multiphasic analysis of copy number variation (CNV), linkage, and single nucleotide variation (SNV) of whole exome sequencing (WES) data for the ef...

Descripción completa

Detalles Bibliográficos
Autores principales:	Park, Gibeom, Gim, Jungsoo, Kim, Arheum, Han, Kyu-Hee, Kim, Hyo-Sang, Oh, Seung-Ha, Park, Taesung, Park, Woong-Yang, Choi, ByungYoon
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3608096/ https://www.ncbi.nlm.nih.gov/pubmed/23506231 http://dx.doi.org/10.1186/1471-2164-14-191

Ejemplares similares

Diagnostic Application of Targeted Resequencing for Familial Nonsyndromic Hearing Loss
por: Choi, Byung Yoon, et al.
Publicado: (2013)

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families
por: Woo, Hae-Mi, et al.
Publicado: (2013)

Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss
por: Jung, Jinsei, et al.
Publicado: (2018)

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss
por: Diaz-Horta, Oscar, et al.
Publicado: (2012)

Correction: Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss
por: Diaz-Horta, Oscar, et al.
Publicado: (2013)

LPEseq: Local-Pooled-Error Test for RNA Sequencing Experiments with a Small Number of Replicates
por: Gim, Jungsoo, et al.
Publicado: (2016)

SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)
por: Kim, Hee-Jin, et al.
Publicado: (2013)

Prevalence of p.V37I Variant of GJB2 in Mild or Moderate Hearing Loss in a Pediatric Population and the Interpretation of Its Pathogenicity
por: Kim, So Young, et al.
Publicado: (2013)

A comparative investigation of variant calling and genotyping for a single non-Caucasian whole genome
por: Park, HyeonSeul, et al.
Publicado: (2023)

Whole-exome sequencing of de novo genetic variants in a Chinese family with a sporadic case of congenital nonsyndromic hearing loss
por: Hu, Sijing, et al.
Publicado: (2021)

BALLI: Bartlett-adjusted likelihood-based linear model approach for identifying differentially expressed genes with RNA-seq data
por: Park, Kyungtaek, et al.
Publicado: (2019)

Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing
por: Woo, Hae-Mi, et al.
Publicado: (2014)

ACTG2 Variants in Pediatric Chronic Intestinal Pseudo-obstruction With Megacystis
por: Hahn, Jong Woo, et al.
Publicado: (2022)

Whole exome sequencing for the identification of CYP3A7 variants associated with tacrolimus concentrations in kidney transplant patients
por: Sohn, Minji, et al.
Publicado: (2018)

Genetics of Nonsyndromic Congenital Hearing Loss
por: Egilmez, Oguz Kadir, et al.
Publicado: (2016)

Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss
por: Lee, Sang-Yeon, et al.
Publicado: (2021)

Author Correction: Whole exome sequencing for the identification of CYP3A7 variants associated with tacrolimus concentrations in kidney transplant patients
por: Sohn, Minji, et al.
Publicado: (2020)

Exome Sequencing and Linkage Analysis Identified Tenascin-C (TNC) as a Novel Causative Gene in Nonsyndromic Hearing Loss
por: Zhao, Yali, et al.
Publicado: (2013)

Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss
por: Hu, Jiongjiong, et al.
Publicado: (2016)

Screening of Connexin 26 in Nonsyndromic Hearing Loss
por: Moreira, Danielle, et al.
Publicado: (2014)

Rare Variants in Novel Candidate Genes Associated With Nonsyndromic Patent Ductus Arteriosus Identified With Whole-Exome Sequencing
por: Gao, Ying, et al.
Publicado: (2022)

Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)
por: Сhurbanov, Alexander Y., et al.
Publicado: (2016)

Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population
por: Kim, So Young, et al.
Publicado: (2015)

Whole-exome and whole-transcriptome sequencing of canine mammary gland tumors
por: Kim, Ka-Kyung, et al.
Publicado: (2019)

Nucleotide- and Protein-Dependent Functions of Actg1
por: Sundby, Lauren J., et al.
Publicado: (2022)

Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia
por: Plevova, Pavlina, et al.
Publicado: (2018)

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients
por: Pál, Margit, et al.
Publicado: (2023)

Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing
por: Yue, Haitang, et al.
Publicado: (2022)

Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss
por: Miyajima, Hiroki, et al.
Publicado: (2020)

Whole-genome sequencing in clinically diagnosed Charcot–Marie–Tooth disease undiagnosed by whole-exome sequencing
por: Kim, Young-gon, et al.
Publicado: (2023)

Genetic alterations and their clinical implications in gastric cancer peritoneal carcinomatosis revealed by whole-exome sequencing of malignant ascites
por: Lim, Byungho, et al.
Publicado: (2016)

Molecular Characterization of Colorectal Signet-Ring Cell Carcinoma Using Whole-Exome and RNA Sequencing()()
por: Nam, Jae-Yong, et al.
Publicado: (2018)

Nonsyndromic Multiple Basal Cell Carcinomas
por: Kim, Dong Hwi, et al.
Publicado: (2017)

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
por: Sifrim, Alejandro, et al.
Publicado: (2016)

Identification of potential causal variants for premature ovarian failure by whole exome sequencing
por: Jin, Haengun, et al.
Publicado: (2020)

Predicting multi-class responses to preoperative chemoradiotherapy in rectal cancer patients
por: Gim, Jungsoo, et al.
Publicado: (2016)

Molecular diagnosis of McArdle disease using whole-exome sequencing
por: Kang, Ju-Hyung, et al.
Publicado: (2021)

Whole-exome and transcriptome sequencing of refractory diffuse large B-cell lymphoma
por: Park, Ha Young, et al.
Publicado: (2016)

Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family
por: Gao, Juanjuan, et al.
Publicado: (2015)

Continuing or adding IL-2 in patients treated with antiretroviral therapy (ACTG Protocol A5051, a rollover trial of ACTG Protocol A328)
por: Bosch, Ronald J, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_q675kc8js4qabfa5u2n9of241p