(Q37435858)

English

Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.

scientific article published on 14 January 2012

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20 January 2020

Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities (English)

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20 January 2020

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20 January 2020

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Xi Lin

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20 January 2020

Wenxue Tang

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Shoeb Ahmad

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20 January 2020

Jingqiao Lu

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Candice C Colby

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Qing Yu

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20 January 2020

Hearing Research

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20 January 2020

A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach

1 reference

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Performance comparison of exome DNA sequencing technologies

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Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

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Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnostics

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TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

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Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

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Design and synthesis of a 3'-O-allyl photocleavable fluorescent nucleotide as a reversible terminator for DNA sequencing by synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3881369

23 August 2017

Sensorineural hearing loss in children.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3881369

23 August 2017

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3881369

23 August 2017

A physical map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3881369

23 August 2017

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3881369

23 August 2017

Initial sequencing and analysis of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3881369

23 August 2017

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3881369

23 August 2017

Targeted bisulfite sequencing reveals changes in DNA methylation associated with nuclear reprogramming

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3881369

14 September 2017

Comparative analysis of algorithms for next-generation sequencing read alignment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3881369

26 June 2018

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3881369

2 September 2018

Microarray-based genomic selection for high-throughput resequencing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3881369

2 September 2018

The use of genetic testing in the evaluation of hearing impairment in a child.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3881369

2 September 2018

The current status of EHDI programs in the United States

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3881369

2 September 2018

Minimizing false-positives in universal newborn hearing screening: a simple solution.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3881369

2 September 2018

Cost-effective multiplexing before capture allows screening of 25 000 clinically relevant SNPs in childhood acute lymphoblastic leukemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3881369

3 December 2018

Next-Generation Sequencing Technology Reveals a Characteristic Pattern of Molecular Mutations in 72.8% of Chronic Myelomonocytic Leukemia by Detecting Frequent Alterations in TET2, CBL, RAS, and RUNX1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3881369

3 December 2018

Human genome: Genomes by the thousand

1 reference

https://pubmed.ncbi.nlm.nih.gov/22269275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-speed chromosome sorting

1 reference

https://pubmed.ncbi.nlm.nih.gov/22269275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Nonenzymatic RNA Polymerase Model

1 reference

https://pubmed.ncbi.nlm.nih.gov/22269275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/22269275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

https://pubmed.ncbi.nlm.nih.gov/22269275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.HEARES.2012.01.004

1 reference

https://api.fatcat.wiki/v0/release/wkbcm73tibcoba7vmakyfqd67e

30 July 2022

based on heuristic

mapped directly with Wikidata item

release_wkbcm73tibcoba7vmakyfqd67e

1 reference

https://api.fatcat.wiki/v0/release/wkbcm73tibcoba7vmakyfqd67e

30 July 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

https://api.fatcat.wiki/v0/release/wkbcm73tibcoba7vmakyfqd67e

30 July 2022

based on heuristic

mapped directly with Wikidata item

PubMed publication ID

1 reference

https://api.fatcat.wiki/v0/release/wkbcm73tibcoba7vmakyfqd67e

30 July 2022

based on heuristic

mapped directly with Wikidata item

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

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