Choice of transcripts and software has a large effect on variant annotation

Genome Medicine

Volumn 6, Issue 3, 2014, Pages

  McCarthy, Davis J ^a,b   Humburg, Peter ^b   Kanapin, Alexander ^b   Rivas, Manuel A ^b   Gaulton, Kyle ^b   Cazier, Jean Baptiste ^a   Donnelly, Peter ^a,b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MICRORNA; UNTRANSLATED RNA;

ARTICLE; CONTROLLED STUDY; DATA ANALYSIS SOFTWARE; DNA SEQUENCE; EXON; FRAMESHIFT MUTATION; GENE PRODUCT; GENE SEQUENCE; GENETIC ALGORITHM; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; IMMUNOPATHOLOGY; INDEL MUTATION; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; NONSENSE MEDIATED MRNA DECAY; PRIORITY JOURNAL; RNA SPLICING; START CODON; STOP CODON;

EID: 84901410645     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm543     Document Type: Article

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