Structural variations, the regulatory landscape of the genome and their alteration in human disease

BioEssays

Volumn 35, Issue 6, 2013, Pages 533-543

  Spielmann, Malte ^a,b   Mundlos, Stefan ^a,b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

Cis regulatory elements; CNVs; Non coding mutations in human disease; Regulatory landscape; Structural variations; Topological domains; Variability

Indexed keywords

COPY NUMBER VARIATION; GENE CONTROL; GENE MUTATION; GENE STRUCTURE; GENETIC CODE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOME; GENOMICS; HIGH THROUGHPUT SCREENING; HUMAN; HUMAN GENETICS; NONHUMAN; PROTEIN DOMAIN; REGULATORY MECHANISM; REVIEW;

ANIMALS; CHROMOSOME ABERRATIONS; GENE EXPRESSION REGULATION; GENETIC DISEASES, INBORN; GENETIC VARIATION; GENOME, HUMAN; HUMANS; MULTIGENE FAMILY; NUCLEIC ACID CONFORMATION; REGULATORY SEQUENCES, NUCLEIC ACID;

EID: 84877917486     PISSN: 02659247     EISSN: 15211878     Source Type: Journal    
DOI: 10.1002/bies.201200178     Document Type: Review

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