Evidence map›Paper›PMID 30505812›Full record

ArticleAdvanced biomedical research2018

Applying Two Different Bioinformatic Approaches to Discover Novel Genes Associated with Hereditary Hearing Loss via Whole-Exome Sequencing: ENDEAVOUR and HomozygosityMapper.

Mohammad Reza Pourreza, Hannane Mohammadi, Ladan Sadeghian, Samira Asgharzadeh, Mohammadreza Sehhati, Mohammad Amin Tabatabaiefar

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Article in Advanced biomedical research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
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2citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Mohammad Reza PourrezaDepartment of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Hannane MohammadiDepartment of Bioinformatics, School of Advanced Technologies in Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Ladan SadeghianIsfahan Cardiovascular Research Center, Isfahan Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran.
Samira AsgharzadehCellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Mohammadreza SehhatiDepartment of Bioinformatics, School of Advanced Technologies in Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Mohammad Amin TabatabaiefarDepartment of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHearing loss (HL) is a highly prevalent heterogeneous deficiency of sensory-neural system with involvement of several dozen genes. Whole-exome sequencing (WES) is capable of discovering known and novel genes involved with HL. MATERIALS AND

methodsTwo pedigrees with HL background from Khuzestan province of Iran were selected. Polymerase chain reaction-sequencing of

results

conclusionWES is regarded a powerful approach to discover molecular etiology of Mendelian inherited disorders, but as it fails to enrich GC-rich regions, incapability of capturing noncoding regulatory regions and limited specificity and accuracy of copy number variations detection tools from exome data, it is assumed an insufficient procedure.

Indexed as

ENDEAVOURhearing losshomozygosity mappingIranwhole-exome sequencing

Identifiers

PMID30505812
PMCPMC6233028

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