A new era in the discovery of de novo mutations underlying human genetic disease

Human Genomics

Volumn 6, Issue 1, 2012, Pages

  Ku, Chee Seng ^a   Vasiliou, Vasilis ^b   Cooper, David N ^c  

^a KAROLINSKA INSTITUTE   (Sweden)

^b UNIVERSITY OF COLORADO   (United States)

^c CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

De novo mutation; Exome sequencing; Human disease

Indexed keywords

GENE MUTATION; GENETIC CONSERVATION; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN GENOME; MISSENSE MUTATION; MUTATION RATE; PHENOTYPE; POINT MUTATION; REVIEW; EDITORIAL; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; HETEROZYGOTE; MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM;

GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84876592280     PISSN: 14739542     EISSN: 14797364     Source Type: Journal    
DOI: 10.1186/1479-7364-6-27     Document Type: Review

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