Advertisement

Topics

A Big Data Perspective on the Genomics of Hearing Loss.

07:00 EST 1st March 2019 | BioPortfolio

Summary of "A Big Data Perspective on the Genomics of Hearing Loss."

The completion of the human genome, the most fundamental example of big data in science and medicine, is the remarkable product of multidisciplinary collaboration and is regarded as one of the largest and most successful undertakings in human history. Unravelling the human genome means not only identifying the sequence of its more than 3.2 billion nucleotide bases, but also understanding disease-associated variations and applying this knowledge to patient-tailored precision medicine approaches. Genomics has moved at a remarkable pace, with much of the propelling forces behind this credited to technological developments in sequencing, computing, and bioinformatics, that have given rise to the term "big genomics data." The analysis of genetics data in a disease context involves the use of several big data resources that take the form of clinical genetics data repositories, in silico prediction tools, and allele frequency databases. These exceptional developments have cultivated high-throughput sequencing technologies that are capable of producing affordable high-quality data ranging from targeted gene panels to exomes and genomes. These new advancements have revolutionized the diagnostic paradigm of hereditary diseases including genetic hearing loss.Dissecting hereditary hearing loss is exceptionally challenging due to extensive genetic and clinical heterogeneity. There are presently over 150 genes involved in non-syndromic and common syndromic forms of hearing loss. The mutational spectrum of a single hearing loss associated-gene can have several tens to hundreds of pathogenic variants. Moreover, variant interpretation of novel variants can pose a challenge when conflicting information is deposited in valuable databases. Harnessing the power that comes from detailed and structured phenotypic information has proven promising for some forms of hearing loss, but may not be possible for all genetic forms due to highly variable clinical presentations. New knowledge in both diagnostic and scientific realms continues to rapidly accumulate. This overwhelming amount of information represents an increasing challenge for medical specialists. As a result, specialist medical care may evolve to take on new tasks and facilitate the interface between the human genetic diagnostic laboratory and the patient. These tasks include genetic counselling and the inclusion of genetics results in patient care.This overview is intended to serve as a reference to otolaryngologists who wish to gain an introduction to the molecular genetics of hearing loss. Key concepts of molecular genetic diagnostics will be presented. The complex processes underlying the identification and interpretation of genetic variants in particular would be inconceivable without the enormous amount of data available. In this respect, "big data" is an indispensable prerequisite for filtering genetic data in specific individual cases and making it clear and useful, especially for clinicians in contact with patients.

Affiliation

Journal Details

This article was published in the following journal.

Name: Laryngo- rhino- otologie
ISSN: 1438-8685
Pages: S32-S81

Links

DeepDyve research library

PubMed Articles [17693 Associated PubMed Articles listed on BioPortfolio]

Genetic Hearing Loss and Gene Therapy.

Genetic hearing loss crosses almost all the categories of hearing loss which includes the following: conductive, sensory, and neural; syndromic and nonsyndromic; congenital, progressive, and adult ons...

Otolaryngology for the Internist: Hearing Loss.

Hearing loss is the third most common chronic condition but can be secondary to a range of conditions encountered in primary care. This article reviews the presentation, evaluation, differential diagn...

Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss.

Hearing loss (HL) is the most prevalent sensory disorder. The over 100 genes implicated in autosomal recessive nonsyndromic hearing loss (ARNSHL) makes it difficult to analyze and determine the accura...

The Relationship Between Hearing Loss and Substance Use Disorders Among Adults in the U.S.

Hearing loss is common and associated with poorer health and impeded communication. Little is known about the association between hearing loss and substance use disorders in the general population. Th...

Elevated matrix metalloproteinase-3 level may affect hearing function in patients with rheumatoid arthritis.

Rheumatoid arthritis (RA) is an autoimmune disease. Sensorineural and conductive hearing loss have been reported in RA, but the results of most studies are not in agreement. The pathogenesis of the he...

Clinical Trials [5575 Associated Clinical Trials listed on BioPortfolio]

Hearing Loss, Vestibular Loss and Cognitive Performance

Hearing loss is an established independent risk factor for dementia. Likewise, recent research demonstrated cognitive deficits in subjects with vestibular loss. However, in these studies d...

Clinical Trial of the "Living Well With Hearing Loss Workshop"

This study evaluates whether a 2 hour group session, "The Living Well with Hearing Loss Workshop," can successfully teach hard of hearing people how to best use hearing aids and a variety...

Audiology Visits After Screening for Hearing Loss: An RCT

Hearing impairment is one of the most common disabilities in veterans. The decreased ability to communicate is troubling in itself, but the strong association of hearing loss with functio...

Real-World Benefit From Directional Hearing Aids

Directional microphone hearing aids have been shown to provide benefit for individuals with hearing loss in a number of laboratory experiments. However, few studies have investigated the r...

AM-111 in the Treatment of Acute Inner Ear Hearing Loss

The purpose of this research study is to test the effectiveness and safety of the study drug, AM-111. AM-111 is tested for the treatment of sudden sensorineural hearing loss where the caus...

Medical and Biotech [MESH] Definitions

Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz.

Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss.

Hearing loss due to damage or impairment of both the conductive elements (HEARING LOSS, CONDUCTIVE) and the sensorineural elements (HEARING LOSS, SENSORINEURAL) of the ear.

Hearing loss without a physical basis. Often observed in patients with psychological or behavioral disorders.

Hearing loss in frequencies above 1000 hertz.

Advertisement
Quick Search
Advertisement
Advertisement

 


DeepDyve research library

Relevant Topics

Hearing
Hearing, auditory perception, or audition is the ability to perceive sound by detecting vibrations, changes in the pressure of the surrounding medium through time, through an organ such as the ear. Sound may be heard through solid, liquid, or gaseous mat...

Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

Biotechnology Business
Alliances Astrazeneca Bioethics Boehringer Clinical Research Organization Collaborations GSK Johnson & Johnson Lilly Merck Mergers and Acquisitions Nexium Novartis Pfizer Roche Sanofi ...


Searches Linking to this Article