Gene inactivation and its implications for annotation in the era of personal genomics

Genes and Development

Volumn 25, Issue 1, 2011, Pages 1-10

  Balasubramanian, Suganthi ^a   Habegger, Lukas ^a   Frankish, Adam ^b   MacArthur, Daniel G ^b   Harte, Rachel ^c   Tyler Smith, Chris ^b   Harrow, Jennifer ^b   Gerstein, Mark ^a,d  

^a YALE UNIVERSITY   (United States)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d Yale University   (United States)

Author keywords

Ancestral allele; Gene annotation; Loss of function; Nonsense SNP; Personal genomics; Pseudogene

Indexed keywords

ALLELE; GENE INACTIVATION; GENE NUMBER; GENE SEQUENCE; GENETIC VARIABILITY; GENOMICS; HUMAN; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PSEUDOGENE; REVIEW; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM;

GENE SILENCING; GENETIC PRIVACY; GENETIC VARIATION; GENOME, HUMAN; HUMANS; MOLECULAR SEQUENCE ANNOTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 78650901894     PISSN: 08909369     EISSN: 15495477     Source Type: Journal    
DOI: 10.1101/gad.1968411     Document Type: Review

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