GENESIS

GENESIS enables storage, annotation, sharing, and analysis of genome-scale variant data to support Mendelian disease gene discovery.

Key Features:

• Collaborative data sharing and matchmaking: User-driven data sharing and a matchmaking system connect researchers and complementary datasets to enable case matching for Mendelian disease gene discovery.
• Genome-scale variant storage and annotation: Stores, annotates, and manages genome-scale variant datasets.
• Variant analysis and evidence aggregation: Enables analysis of variants and aggregation of genetic evidence to support gene identification and phenotype/genotype correlations.
• Community-contributed discoveries: A global community of approximately 600 registered users from 44 countries has contributed to 62 gene identifications or publications.
• Integration with The Genesis Project: Operates within The Genesis Project framework to support research-focused genomic data sharing.

Scientific Applications:

• Mendelian disease gene discovery: Analyzes genome-scale sequencing variant data to identify causal mutations underlying Mendelian disorders.
• Phenotype–genotype correlation: Aggregates variant and phenotypic data to strengthen phenotype/genotype associations.
• Collaborative evidence pooling for publication: Facilitates assembling genetic evidence across groups to support gene discovery and publication.

Methodology:

Users upload, annotate, and analyze genome-scale variant data within a shared environment, and a matchmaking system links users with complementary datasets or research interests.