Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. - Wikidata - wikimedia - TriplyDB

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

http://www.wikidata.org/entity/Q42034064

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Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease.Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans.Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients A Challenging Form of Non-autoimmune Insulin-Dependent Diabetes in a Wolfram Syndrome Patient with a Novel Sequence Variant.A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.Molecular diagnostics for hereditary hearing loss in children.Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.Navigating genetic diagnostics in patients with hearing loss.The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease.DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.REPRODUCIBLE AND SHAREABLE QUANTIFICATIONS OF PATHOGENICITY.Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport.Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.Carrier re-sequencing reveals rare but benign variants in recessive deafness genes.The R130S mutation significantly affects the function of prestin, the outer hair cell motor protein.Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension.InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines Abnormal mRNA splicing but normal auditory brainstem response (ABR) in mice with the prestin (SLC26A5) IVS2-2A>G mutation.A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives.VarCards: an integrated genetic and clinical database for coding variants in the human genome.

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Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

http://www.wikidata.org/entity/Q42034064

description

2014 nî lūn-bûn

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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2014年论文

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2014年论文

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name

Utilizing ethnic-specific diff ...... pathogenic deafness variants.

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Utilizing ethnic-specific diff ...... pathogenic deafness variants.

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Utilizing ethnic-specific diff ...... pathogenic deafness variants.

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Utilizing ethnic-specific diff ...... pathogenic deafness variants.

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Utilizing ethnic-specific diff ...... pathogenic deafness variants.

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Utilizing ethnic-specific diff ...... pathogenic deafness variants.

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J.AJHG.2014.09.001

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American Journal of Human Genetics

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Utilizing ethnic-specific diff ...... d pathogenic deafness variants

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A Eliot Shearer

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Allen Simpson

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Angelica C Giuffre

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Chaim Jalas

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E Ann Black-Ziegelbein

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Emily M LeProust

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Greizy Lopez Leal

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Harini Ravi

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Hela Azaiez

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Irene Gazquez

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P2860

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

Fast and accurate short read alignment with Burrows-Wheeler transform

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

The Sequence Alignment/Map format and SAMtools

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

BEDTools: a flexible suite of utilities for comparing genomic features.

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445-453

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10.1016/J.AJHG.2014.09.001

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Michael S. Hildebrand

Hossein Najmabadi

Jose A Lopez-Escamez

Nancy Yaneth Gelvez

Martalucía Tamayo

Todd E. Scheetz

Richard J Smith

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2014-09-25T00:00:00Z

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