Experiences with array-based sequence capture; Toward clinical applications

European Journal of Human Genetics

Volumn 19, Issue 1, 2011, Pages 50-55

  Almomani, Rowida ^a   Van Der Heijden, Jaap ^a   Ariyurek, Yavuz ^a   Lai, Yuching ^a   Bakker, Egbert ^a   Van Galen, Michiel ^a   Breuning, Martijn H ^a   Den Dunnen, Johan T ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN;

ARTICLE; CONGENITAL MALFORMATION; CONTROLLED STUDY; DATA ANALYSIS; DIAGNOSTIC IMAGING; DNA FLANKING REGION; DNA MICROARRAY; DNA STRAND; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE SEQUENCE; GENETIC CODE; HUMAN; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM;

CONGENITAL ABNORMALITIES; GALACTOSYLTRANSFERASES; GENES; GENOME, HUMAN; GLUCOSYLTRANSFERASES; HUMANS; MENTAL RETARDATION; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 78650065588     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.145     Document Type: Article

References (25)

1. Sanger F, Nicklen S, Coulson AR: DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 1977; 74: 5463-5467.
2. Chelly J, Khelfaoui M, Francis F, Chérif B, Bienvenu T: Genetics and pathophysiology of mental retardation. Eur J Hum Genet 2006; 14: 701-713.
3. Szigeti K, Lupski JR: Charcot-Marie-Tooth disease. Eur J Hum Genet 2009; 17: 703-710.
4. Paul M, Zumhagen S, Stallmeyer B, Koopmann M, Spieker T, Schulze-Bahr E: Genes causing inherited forms of cardiomyopathies. A current compendium. Herz 2009; 34: 98-109.
5. Hartong DT, Berson EL, Dryja TP: Retinitis pigmentosa. Lancet 2006; 368: 1795-1809.
6. Muhle R, Trentacoste SV, Rapin I: The genetics of autism. Pediatrics 2004; 113: 472-486.
7. Hilgert N, Smith RJ, Van Camp G: Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 2009; 681: 189-196.
8. Freeze H: Genetic defects in the human glycome. Nat Rev Genet 2006; 7: 537-551.
9. Bonetta L: Genome sequencing in the fast lane. Nat Methods 2006; 3: 141-147.
10. Von Bubnoff A: Next-generation sequencing: the race is on. Cell 2008; 132: 721-723.
11. Schuster SC: Next-generation sequencing transforms today's biology. Nat Methods 2008; 5: 16-18.
12. Shendure J, Ji H: Next-generation DNA sequencing. Nat Biotechnol 2008; 26: 1135-1145.
13. Albert TJ, Molla MN, Muzny DM et al: Direct selection of human genomic loci by microarray hybridization. Nat Methods 2007; 4: 903-905.
14. Okou DT, Steinberg KM, Middle C, Cutler DJ, Albert TJ, Zwick ME: Microarray-based genomic selection for high-throughput resequencing. Nat Methods 2007; 4: 907-909.
15. Hodges E, Xuan Z, Balija V et al: Genome-wide in situ exon capture for selective resequencing. Nat Genet 2007; 39: 1522-1527.
16. Roche NibleGen: NimbleGen services user's guides: sequence capture service.http:// www.nimblegen.com/products/lit/SeqCap-UsersGuide-Service-v3p0. pdf.
17. Edwards MC, Gibbs RA: Multiplex PCR: advantages, development, and applications. PCR Methods Appl 1994; 3: S65-S75.
18. Markoulatos P, Siafakas N, Moncany M: Multiplex polymerase chain reaction: a practical approach. J Clin Lab Anal 2002; 16: 47-51.
19. Cutler DJ, Zwick ME, Carrasquillo MM et al: High-throughput variation detection and genotyping using microarrays. Genome Res 2001; 11: 1913-1925.
20. Dahl F, Gullberg M, Stenberg J, Landegren U, Nilsson M: Multiplex amplification enabled by selective circularization of large sets of genomic DNA fragments. Nucleic Acids Res 2005; 33: 71.
21. Dahl F, Stenberg J, Fredriksson S et al: Multigene amplification and massively parallel sequencing for cancer mutation discovery. Proc Natl Acad Sci USA 2007; 104: 9387-9392.
22. Bashiardes S, Veile R, Helms C, Mardis ER, Bowcock AM, Lovett M: Direct genomic selection. Nat Methods 2005; 2: 63-69.
23. Tewhey R, Warner JB, Nakano M et al: Microdroplet-based PCR enrichment for large-scale targeted sequencing. Nat Biotech nol 2009; 27: 1025-1031.
24. Shaw-Smith C, Redon R, Rickman L et al: Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 2004; 41: 241-248.
25. Gnirke A, Melnikov A, Maguire J et al: Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol 2009; 27: 182-189.