Exome sequencing for gene discovery: Time to set standard criteria

Annals of Neurology

Volumn 72, Issue 4, 2012, Pages 627-628

  Klein, Christine ^a   König, Inke R ^a   Lohmann, Katja ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CIZ1 GENE; EXOME; FOCAL DYSTONIA; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; LETTER; MARKER GENE; MISSENSE MUTATION; PENETRANCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STANDARD; TER1A GENE;

COMPUTATIONAL BIOLOGY; DNA; EXONS; GENETICS; GENOME; GENOME-WIDE ASSOCIATION STUDY; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84868102085     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.23658     Document Type: Letter

References (5)

1. Xiao J, Uitti RJ, Zhao Y, et al. Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol 2012; 71: 458-469.
2. Lam HY, Clark MJ, Chen R, et al. Performance comparison of whole-genome sequencing platforms. Nat Biotechnol 2012; 30: 78-82.
3. Gilissen C, Hoischen A, Brunner HG, Veltman JA,. Disease gene identification strategies for exome sequencing. Eur J Hum Genet 2012; 20: 490-497.
4. Kabakci K, Hedrich K, Leung JC, et al. Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology 2004; 62: 395-400.
5. Ku CS, Cooper DN, Polychronakos C, et al. Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol 2012; 71: 5-14.