GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data.
E MossottoJ J AshtonL O'GormanR J PengellyR M BeattieB D MacArthurS EnnisPublished in: BMC bioinformatics (2019)
Per-gene per-individual GenePy scores are intuitive when assessing genetic variation in individual patients or comparing scores between groups. GenePy outperforms the currently accepted best practice tools for combining common and rare variation. GenePy scores are suitable for downstream data integration with transcriptomic and proteomic data that also report at the gene level.
Keyphrases
- copy number
- electronic health record
- genome wide
- big data
- end stage renal disease
- genome wide identification
- healthcare
- primary care
- ejection fraction
- newly diagnosed
- prognostic factors
- peritoneal dialysis
- single cell
- pseudomonas aeruginosa
- gene expression
- cystic fibrosis
- machine learning
- transcription factor
- staphylococcus aureus
- patient reported outcomes
- biofilm formation
- rna seq
- circulating tumor cells