Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies.
Michael J. CormierBrent S. PedersenPinar Bayrak-ToydemirAaron R. QuinlanPublished in: BMC Bioinform. (2022)
Keyphrases
- alternative splicing
- human genome
- genetic variation
- sequence data
- genome wide association studies
- genome wide
- single nucleotide polymorphisms
- association studies
- complex diseases
- dna sequences
- high throughput
- gene gene interactions
- splice site
- rna seq
- gene prediction
- genetic algorithm
- disease diagnosis
- linear constraints
- gene expression