Evidence map›Paper›PMID 26850479›Full record

ArticleHearing research2016

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes.

Demet Tekin, Denise Yan, Guney Bademci, Yong Feng, Shengru Guo, Joseph Foster, Susan Blanton, Mustafa Tekin, Xuezhong Liu

Abstract read
In one paragraph

Article in Hearing research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
4.5field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

25 citing papers in PubMed, 48 citations in OpenAlex.

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  10. Spectrum ofGenes · 2021
    Article
  11. Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2020
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 3 institutions in 2 countries.

Demet Tekin *Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Denise Yan *Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Guney BademciDr. John T. Macdonald Foundation Department of Human Genetics, and John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.
Yong FengDepartment of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Shengru GuoDr. John T. Macdonald Foundation Department of Human Genetics, and John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.
Joseph FosterDr. John T. Macdonald Foundation Department of Human Genetics, and John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.
Susan BlantonDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Mustafa TekinDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Xuezhong LiuDepartment of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
University of Miami · USCentral South University · CNDr. John T. Macdonald Foundation · US

Funding

SPEECH UNDERSTANDING IN REALISTIC ENVIRONMENTSP50DC000422 · NIDCD · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI DUBNO, JUDY R · 1989 to 2025
$45.3M
A Collaborative Search for New Genes for Non-Syndromic DeafnessR01DC009645 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MUSTAFA TEKIN · 2010 to 2026
$11.8M
Molecular Genetics on Non Syndromic Hearing Loss (NSHL)R01DC005575 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LIU, XUE Z · 2001 to 2024
$10.6M
Sensory disorders in COVID -19 as an early identifier and healthcare worker protectionR01DC012115 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LIU, XUE Z · 2013 to 2022
$7.2M
Genetic Studies of Inner Ear AnomaliesR01DC012836 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI TEKIN, MUSTAFA · 2013 to 2017
$3.2M
Molecular Genetics of autosomal dominant non-syndromic hearing lossR01DC012546 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LIU, XUE Z · 2012 to 2016
$1.6M
NIDCD NIH HHS 2P50DC000422NIDCD NIH HHS P50 DC000422NIDCD NIH HHS R01 DC005575NIDCD NIH HHS R01 DC009645NIDCD NIH HHS R01 DC012115NIDCD NIH HHS R01 DC01246NIDCD NIH HHS R01 DC012546NIDCD NIH HHS R01 DC012836NIDCD NIH HHS R01DC012836NIDCD NIH HHS R01 DC05575NIDCD NIH HHS R01DC09645
6 · The paper itself

Abstract

Extreme genetic heterogeneity along with remarkable variation in the distribution of causative variants across in different ethnicities makes single gene testing inefficient for hearing loss. We developed a custom capture/next-generation sequencing gene panel of 146 known deafness genes with a total target size of approximately 1 MB. The genes were identified by searching databases including Hereditary Hearing Loss Homepage, the Human Genome Mutation Database (HGMD), Online Mendelian Inheritance in Man (OMIM) and most recent peer-reviewed publications related to the genetics of deafness. The design covered all coding exons, UTRs and 25 bases of intronic flanking sequences for each exon. To validate our panel, we used 6 positive controls with variants in known deafness genes and 8 unsolved samples from individuals with hearing loss. Mean coverage of the targeted exons was 697X. On average, each sample had 99.8%, 96.2% and 92.7% of the targeted region coverage of 1X, 50X and 100X reads, respectively. Analysis detected all known variants in nuclear genes. These results prove the accuracy and reliability of the custom capture experiment.

Indexed as

Genetic VariationHigh-Throughput Nucleotide SequencingComputational BiologyDatabases, GeneticDeafnessExonsGenetic Association StudiesGenetic MarkersGenetic Predisposition to DiseaseHearingHeredityHumansPedigreePhenotypeReproducibility of ResultsUntranslated RegionsGenetic MarkersUntranslated RegionsCustom captureDeafnessGeneHearing lossNext generation sequencing

Identifiers

PMID26850479
PMCPMC4798889
OpenAlexW2268155692

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.