VarChat software is powered by enGenome.
enGenome, an accredited spin-off from the University of Pavia founded in 2016, combines bioinformatics, biotechnology, and software development expertise to enhance genetic disease diagnosis and treatment through advanced AI and bioinformatics tools, supported by a multidisciplinary team of engineers, biotechnologists, and developers.
For every queried variant, VarChat produces concise and coherent summaries through an LLM model. Relevant references are identified through a modified BM25 ranking algorithm. More weight is given to papers that cite the variant in the abstract and were published in the last two years, while papers that report the variant only in the supplementary are penalized.
The raw data can be explored interactively with the Table Browser or the Data Integrator. The data can be accessed from scripts through our -API, the track name is "varChat".
+API, the track name is "varChat".For automated download and analysis, the genome annotation is stored in a bigBed file that can be downloaded from our download server. The file for this track is called varChat.bb. Individual regions or the whole genome annotation can be obtained using our tool bigBedToBed which can be compiled from the source code or downloaded as a precompiled binary for your system.
Instructions for downloading source code and binaries can be found
here.
The tool
can also be used to obtain only features within a given range, e.g.