Disease-associated variants in different categories of disease located in distinct regulatory elements

BMC Genomics

Volumn 16, Issue 8, 2015, Pages

  Ma, Meng ^a,c   Ru, Ying ^a,b   Chuang, Ling Shiang ^a   Hsu, Nai Yun ^a   Shi, Li Song ^a   Hakenberg, Jörg ^a   Cheng, Wei Yi ^a   Uzilov, Andrew ^a   Ding, Wei ^a   Glicksberg, Benjamin S ^a   Chen, Rong ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b ANHUI PROVINCIAL HOSPITAL   (China)

^c ANHUI UNIVERSITY   (China)

Author keywords

Cancer predisposing germline variant; Chromatin physical interaction; Complex disease; Disease associated variants; Histone modification; Mendelian disease; Promoter; Recurrent cancer somatic mutation; Regulatory elements

Indexed keywords

ARTICLE; CALCULATION; CANCER PREDISPOSING GERMLINE VARIANT; CHROMATIN; COMPARATIVE STUDY; COMPLEX DISEASE VARIANT; CONTROLLED STUDY; DISEASE COURSE; ENHANCER REGION; EXON; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HISTONE MODIFICATION; HUMAN; INSULATOR ELEMENT; MENDELIAN DISEASE VARIANT; PROMOTER REGION; RECURRENT CANCER SOMATIC MUTATION; REGULATORY MECHANISM; REGULATORY SEQUENCE; SOMATIC MUTATION; BIOLOGY; DISEASES; GENETIC VARIATION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HIGH THROUGHPUT SEQUENCING;

CHROMATIN; HISTONE; ISOPROTEIN;

CHROMATIN; COMPUTATIONAL BIOLOGY; DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HISTONES; HUMANS; PROTEIN ISOFORMS; REGULATORY ELEMENTS, TRANSCRIPTIONAL;

EID: 84969542809     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/1471-2164-16-S8-S3     Document Type: Article

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