VariCarta

VariCarta aggregates and harmonizes genomic variant data from published Autism Spectrum Disorder (ASD) sequencing studies to produce a standardized, non-redundant repository for genetic and clinical research.

Key Features:

• Data Aggregation and Harmonization: Collects ASD-associated genomic variants from peer-reviewed literature and converts variants into a standardized format while identifying and harmonizing cohort overlaps to prevent duplicate counting.
• Comprehensive Coverage: Contains 170,416 variant events from 10,893 subjects across 61 publications and reconciles 16,202 variants reported multiple times in the literature.
• Curation Pipeline: Employs a semi-manual curation workflow combined with an automated data import pipeline to rectify errors and document data provenance.
• Next-Generation Sequencing Integration: Integrates next-generation sequencing data from diverse studies into the harmonized variant dataset.

Scientific Applications:

• Genetic Research: Facilitates identification of rare, potentially causative genetic variants contributing to ASD.
• Meta-Analyses and Large-Scale Studies: Enables reconciliation of cross-study variant reports to support meta-analyses and more robust gene–ASD association studies.
• Clinical Research: Supports development of genetic screening strategies and investigations toward personalized medicine for ASD.

Methodology:

Semi-manual curation combined with an automated data import pipeline, conversion of variants into a standardized format, identification and harmonization of cohort overlaps, error correction, documentation of data provenance, and integration of next-generation sequencing data from diverse studies.