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Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10388808" target="_blank" >RIV/00216208:11130/18:10388808 - isvavai.cz</a>

  • Result on the web

    <a href="https://doi.org/10.1002/humu.23412" target="_blank" >https://doi.org/10.1002/humu.23412</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1002/humu.23412" target="_blank" >10.1002/humu.23412</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser

  • Original language description

    Charcot-Marie-Tooth disease (CMT) is an umbrella term for inherited neuropathies affecting an estimated one in 2,500 people. Over 120 CMT and related genes have been identified and clinical gene panels often contain more than 100 genes. Such a large genomic space will invariantly yield variants of uncertain clinical significance (VUS) in nearly any person tested. This rise in number of VUS creates major challenges for genetic counseling. Additionally, fewer individual variants in known genes are being published as the academic merit is decreasing, and most testing now happens in clinical laboratories, which typically do not correlate their variants with clinical phenotypes. For CMT, we aim to encourage and facilitate the global capture of variant data to gain a large collection of alleles in CMT genes, ideally in conjunction with phenotypic information. The Inherited Neuropathy Variant Browser provides user-friendly open access to currently reported variation in CMT genes. Geneticists, physicians, and genetic counselors can enter variants detected by clinical tests or in research studies in addition to genetic variation gathered from published literature, which are then submitted to ClinVar biannually. Active participation of the broader CMT community will provide an advance over existing resources for interpretation of CMT genetic variation.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30103 - Neurosciences (including psychophysiology)

Result continuities

  • Project

  • Continuities

    S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2018

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Human Mutation

  • ISSN

    1059-7794

  • e-ISSN

  • Volume of the periodical

    39

  • Issue of the periodical within the volume

    5

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    8

  • Pages from-to

    635-642

  • UT code for WoS article

    000433600000003

  • EID of the result in the Scopus database

    2-s2.0-85043515228