According to a recent report by the Public Health Agency of Canada, each person with Autism Spectrum Disorder (ASD) is unique and will have different symptoms, deficits, and abilities. This range of characteristics spans a “spectrum”, in which each individual’s abilities and deficits vary widely.
Manuel Belmadani, Bioinformatician and first author of the paper.
Research on ASD has benefited from new technology such as whole genome sequencing, leading to an influx of data on genomic variants found in individuals with ASD. Although these vast amounts of collected data have benefited research, the inconsistencies in methodology and subject overlap across studies complicate the data, making it difficult for researchers to access and use. VariCarta, a new online database created by researchers in the laboratory of Dr. Paul Pavlidis, collects ASD data in a carefully curated and consistent way that is easy-to-use and is accessible to all researchers.
The database is described in a recently published paper in Autism Research Journal.
“Collecting data from diverse sources comes with a lot of challenges such as properly resolving duplicates, catching reporting errors, and simply making sense of cases where two sources are saying different things,” says Manuel Belmadani, Bioinformatician and first author of the paper. “Having done that work for our own ASD genetics research projects, we thought VariCarta would be a helpful resource for other researchers.”
VariCarta currently represents the largest collection of systematically curated, harmonized, and annotated literature-derived variants specific to ASD. With over 170,000 genomic variants found across approximately 11,000 ASD individuals, VariCarta offers a comprehensive resource of precisely characterized variants that can be queried in different ways to produce a subset of variants of interest.
