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. 2012 Oct 1;28(19):2515-6.
doi: 10.1093/bioinformatics/bts462. Epub 2012 Jul 23.

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

Tom Kamphans  1 , Peter M Krawitz
Affiliations

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

Tom Kamphans et al. Bioinformatics. .

Abstract

Summary: Next-generation sequencing has become a powerful tool in personalized medicine. Exomes or even whole genomes of patients suffering from rare diseases are screened for sequence variants. After filtering out common polymorphisms, the assessment and interpretation of detected personal variants in the clinical context is an often time-consuming effort. We have developed GeneTalk, a web-based platform that serves as an expert exchange network for the assessment of personal and potentially disease-relevant sequence variants. GeneTalk assists a clinical geneticist who is searching for information about specific sequence variants and connects this user to other users with expertise for the same sequence variant.

Availability: GeneTalk is available at www.gene-talk.de. Users can login without registering in a demo account.

Contact: peter.krawitz@gene-talk.de.

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Figures

Fig. 1
Fig. 1
GeneTalk, a communication platform for sequence variants. A user filters sequence variants down to a small set of potentially disease relevant mutations. She then searches for detailed information annotated by the GeneTalk community for these variants. In GeneTalk, users may annotate and comment genetic variants. Annotations and comments may link to the relevant literature or discuss experimental and clinical findings. Based on this locus-specific information, GeneTalk users may rate the trustworthiness of an annotation and the potential of a mutation to be disease causing. This screenshot is taken from fritz’ account who is looking at the annotation of a mutation in the gene PIGV. The GeneTalk community finds this annotation trustworthy and rates the described mutation as highly likely to cause a syndrome called hyperphosphatasia with mental retardation. The user petkraw left a comment for this variant. He seems to have some expertise in this disease and might be an interesting person to contact for fritz
See this image and copyright information in PMC

References

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