VariCarta: A Comprehensive Database of Harmonized Genomic Variants Found in Autism Spectrum Disorder Sequencing...

Area of Science:

• Genomics
• Bioinformatics
• Neurodevelopmental Disorders

Background:

• Next-generation sequencing has increased the identification of genomic variants in Autism Spectrum Disorder (ASD).
• High genetic heterogeneity in ASD necessitates large sample sizes and data aggregation across studies.
• Methodological inconsistencies and subject overlap hinder effective data aggregation in ASD research.

Purpose of the Study:

• To develop VariCarta, a web-based database for collecting, reconciling, and cataloging literature-derived genomic variants in ASD.
• To address challenges in data aggregation, including methodological inconsistencies and subject overlap.
• To provide a harmonized and consistently curated resource for ASD genomic variant data.

Main Methods:

• Semi-manual curation of literature-derived genomic variants in ASD subjects.
• Development of a robust data import pipeline for error rectification and standardization.
• Identification and harmonization of cohort overlaps to prevent data inflation.

Main Results:

• VariCarta currently contains 170,416 variant events from 10,893 subjects across 61 publications.
• The database reconciles 16,202 variants reported multiple times in the literature.
• Data harmonization prevents potential double counting of variants, enhancing evidence reliability.

Conclusions:

• VariCarta provides a valuable, harmonized resource for ASD genomic variant data.
• The database facilitates more accurate and accessible analysis of genetic factors in ASD.
• Improved data aggregation through VariCarta supports the identification of causative genomic variants in ASD.