Genome-wide detection of human variants that disrupt intronic branchpoints
Article
[키워드] Alter
approach
branchpoint
Candidates
characterized
comparable
COVID-19
Critical
database
demonstrated
detect
disease
Disease genetics
disrupt
disrupting
eight
elements
enzyme
exonic
feature
heterozygous
human gene
human population
identify
initiated
intron
Intronic
intronic variant
ITPKB
lymphoma
machine-learning
motif
nucleotides upstream
pathogenic
Patient
Pneumonia
rare variant
reported
RNA sequencing
RNA splicing
sequencing data
single-nucleotide
Software
splicing
STAT2
utility
variant
variants
Variation
[DOI] 10.1073/pnas.2211194119 PMC 바로가기
[DOI] 10.1073/pnas.2211194119 PMC 바로가기