Mutation severity spectrum of rare alleles in the human genome is predictive of disease type.
Jimin PeiLisa N. KinchZbyszek OtwinowskiNick V. GrishinPublished in: PLoS Comput. Biol. (2020)
Keyphrases
- human genome
- single nucleotide polymorphisms
- genome wide association studies
- dna sequences
- genome wide
- complex diseases
- linkage disequilibrium
- association studies
- human genome project
- tandem repeats
- genetic algorithm
- evolutionary algorithm
- sequence data
- genotype phenotype
- evolutionary history
- genetic variation
- high throughput
- alternative splicing
- coding regions
- gene prediction
- disease progression
- gene expression time series