Charcot-Marie-Tooth disease (CMT) is an umbrella term for inherited neuropathies affecting an estimated 1 in 2500 people. Over 120 CMT and related genes have been identified and clinical gene panelsoften 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 globalcapture of variant datato 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 arethensubmitted to ClinVar bi-annually.Active participation of the broader CMT community will provide an advance over existing resources for interpretation of CMT genetic variation. This article is protected by copyright. All rights reserved.
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 23 March 2018.
All research outputs
#15,601,340
of 26,378,648 outputs
Outputs from Human Mutation
#2,107
of 3,007 outputs
Outputs of similar age
#186,947
of 356,266 outputs
Outputs of similar age from Human Mutation
#9
of 25 outputs
Altmetric has tracked 26,378,648 research outputs across all sources so far. This one is in the 40th percentile – i.e., 40% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,007 research outputs from this source. They receive a mean Attention Score of 4.8. This one is in the 29th percentile – i.e., 29% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 356,266 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 46th percentile – i.e., 46% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 25 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 64% of its contemporaries.
