Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Eliete da S RodriguesSean GriffithRenan MartinCorina AntonescuJennifer E PoseyZeynep Coban-AkdemirShalini N JhangianiKimberly F DohenyJames R. LupskiDavid ValleMichael J BamshadAda HamoshAssaf ShefferJessica Xiao-Ling ChongYaron EinhornMiro CupakNara Lygia de Macena SobreiraPublished in: Human mutation (2022)
Here we describe MyGene2, Geno2MP, VariantMatcher, and Franklin; databases that provide variant-level information and phenotypic features to researchers, clinicians, healthcare providers and patients. Following the footsteps of the Matchmaker Exchange project that connects exome, genome, and phenotype databases at the gene level, these databases have as one goal to facilitate connection to one another using Data Connect, a standard for discovery and search of biomedical data from the Global Alliance for Genomics and Health (GA4GH).
Keyphrases
- big data
- healthcare
- end stage renal disease
- small molecule
- electronic health record
- newly diagnosed
- ejection fraction
- health information
- copy number
- high throughput
- chronic kidney disease
- genome wide
- pet ct
- peritoneal dialysis
- single cell
- artificial intelligence
- prognostic factors
- palliative care
- gene expression
- risk assessment
- human health
- deep learning
- transcription factor