Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites

American Journal of Human Genetics

Volumn 100, Issue 5, 2017, Pages 751-765

  Lee, Melissa ^a   Roos, Patrick ^b   Sharma, Neeraj ^a   Atalar, Melis ^a   Evans, Taylor A ^a   Pellicore, Matthew J ^a   Davis, Emily ^a   Lam, Anh Thu N ^a   Stanley, Susan E ^a   Khalil, Sara E ^a   Solomon, George M ^c   Walker, Doug ^a   Raraigh, Karen S ^a   Vecchio Pagan, Briana ^a   Armanios, Mary ^a   Cutting, Garry R ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Miner and Kasch   (United States)

^c University of Alabama at Birmingham   (United States)

Author keywords

cryptic splicing; cystic fibrosis; machine learning; minigene; pseudoexon; splice acceptor; splice donor; splice variant; splicing

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DINUCLEOTIDE; DYSKERIN; MESSENGER RNA PRECURSOR; CELL CYCLE PROTEIN; CFTR PROTEIN, HUMAN; DKC1 PROTEIN, HUMAN; NUCLEAR PROTEIN; RNA SPLICE SITE;

AMINO ACID SUBSTITUTION; ARTICLE; CELL LYSATE; CLASSIFIER; CONTROLLED STUDY; CYSTIC FIBROSIS; DYSKERATOSIS CONGENITA; EXON; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; HEK293 CELL LINE; HOMOZYGOSITY; INTRON; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; PHENOTYPE; PRIORITY JOURNAL; PYROSEQUENCING; RNA PROCESSING; RNA SPLICING; RNA TRANSCRIPTION; SANGER SEQUENCING; SPLICEOSOME; SUPPORT VECTOR MACHINE; WESTERN BLOTTING; ALGORITHM; BIOLOGY; DNA SEQUENCE; GENE EXPRESSION REGULATION; GENE LOCUS; GENETIC VARIATION; GENETICS; GENOMICS; HUMAN; METABOLISM; RNA SPLICE SITE;

ALGORITHMS; CELL CYCLE PROTEINS; COMPUTATIONAL BIOLOGY; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DYSKERATOSIS CONGENITA; EXONS; GENE EXPRESSION REGULATION; GENETIC LOCI; GENETIC VARIATION; GENOMICS; HEK293 CELLS; HUMANS; INTRONS; MUTATION, MISSENSE; NUCLEAR PROTEINS; RNA SPLICE SITES; RNA SPLICING; SEQUENCE ANALYSIS, DNA; SUPPORT VECTOR MACHINE;

EID: 85018739883     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2017.04.001     Document Type: Article

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