Regulatory variations in the era of next-generation sequencing: Implications for clinical molecular diagnostics

Human Mutation

Volumn 33, Issue 7, 2012, Pages 1021-1030

  Jarinova, Olga ^a   Ekker, Marc ^b  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

Author keywords

Functional genomics; Molecular diagnostics; NGS; Regulatory sequences

Indexed keywords

UNTRANSLATED RNA;

ARTICLE; BIOINFORMATICS; EXOME; GENE SEQUENCE; GENETIC REGULATION; GENETIC VARIABILITY; HUMAN; HUMAN GENOME; MOLECULAR DIAGNOSIS; MOLECULAR PATHOLOGY; PATHOGENICITY; PRIORITY JOURNAL;

GENOME, HUMAN; HUMANS; PATHOLOGY, MOLECULAR; REGULATORY SEQUENCES, NUCLEIC ACID; SEQUENCE ANALYSIS, DNA;

EID: 84861842993     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22083     Document Type: Article

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