Biomedical Engineering Reference
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Hodges E, Rooks M, Xuan Z et al (2009) Hybrid selection of discrete genomic intervals on
custom-designed microarrays for massively parallel sequencing. Nat Protoc 4:960-974.
doi: 10.1038/nprot.2009.68
Hutchison CA 3rd (2007) DNA sequencing: bench to bedside and beyond. Nucleic Acids Res
35:6227-6237. doi : 10.1093/nar/gkm688
Ju J, Glazer AN, Mathies RA (1996) Energy transfer primers: a new fl uorescence labeling para-
digm for DNA sequencing and analysis. Nat Med 2:246-249
Kirkness EF (2009) Targeted sequencing with microfl uidics. Nat Biotechnol 27:998-999.
doi: 10.1038/nbt1109-998
Lander ES, Linton LM, Birren B et al (2001) Initial sequencing and analysis of the human genome.
Nature 409:860-921. doi : 10.1038/35057062
Metzker ML (2010) Sequencing technologies—the next-generation generation. Nat Rev Genet
11:31-46. doi : 10.1038/nrg2626
Murray JC, Buetow KH, Weber JL et al (1994) A comprehensive human linkage map with centim-
organ density. Cooperative Human Linkage Center (CHLC). Science 265:2049-2054
Ng SB, Bigham AW, Buckingham KJ et al (2010) Exome sequencing identifi es MLL2 mutations
as a cause of Kabuki syndrome. Nat Genet 42:790-793. doi: 10.1038/ng.646
Nikolaev SI, Iseli C, Sharp AJ et al (2009) Detection of genomic variation by selection of a 9 mb
DNA region and high throughput sequencing. PLoS One 4:e6659. doi: 10.1371/journal.
Okou DT, Steinberg KM, Middle C et al (2007) Microarray-based genomic selection for high-
throughput resequencing. Nat Methods 4:907-909. doi : 10.1038/nmeth1109
Palomaki GE, Kloza EM, Lambert-Messerlian GM et al (2011) DNA sequencing of maternal
plasma to detect Down syndrome: an international clinical validation study. Genet Med
13:913-920. doi: 10.1097/GIM.0b013e3182368a0e
Sanger F (1988) Sequences, sequences, and sequences. Annu Rev Biochem 57:1-28. doi: 10.1146/
Sanger F, Coulson AR (1975) A rapid method for determining sequences in DNA by primed syn-
thesis with DNA polymerase. J Mol Biol 94:441-448
Sanger F, Air GM, Barrell BG et al (1977a) Nucleotide sequence of bacteriophage phi X174 DNA.
Nature 265:687-695
Sanger F, Nicklen S, Coulson AR (1977b) DNA sequencing with chain-terminating inhibitors.
Proc Natl Acad Sci U S A 74:5463-5467
Schrauwen I, Sommen M, Corneveaux JJ et al (2013) A sensitive and specifi c diagnostic test for
hearing loss using a microdroplet PCR-based approach and next-generation sequencing. Am J
Med Genet A 161A:145-152. doi: 10.1002/ajmg.a.35737
Shendure JA, Porreca GJ, Church GM et al (2011) Overview of DNA sequencing strategies. In:
FM Ausubel et al (ed) Curr Protoc Mol Biol, Chapter 7, Unit 7.1. John Wiley & Sons, Inc.
doi: 10.1002/0471142727.mb0701s96
Sinsheimer RL (2006) To reveal the genomes. Am J Hum Genet 79:194-196. doi: 10.1086/505887
Sivakumaran TA, Husami A, Kissell D et al (2013) Performance evaluation of the next-generation
sequencing approach for molecular diagnosis of hereditary hearing loss. Otolaryngol Head
Neck Surg. doi: 10.1177/0194599813482294
Smith LM, Sanders JZ, Kaiser RJ et al (1986) Fluorescence detection in automated DNA sequence
analysis. Nature 321:674-679. doi: 10.1038/321674a0
Sulston J, Du Z, Thomas K et al (1992) The C. elegans genome sequencing project: a beginning.
Nature 356:37-41. doi: 10.1038/356037a0
Tewhey R, Warner JB, Nakano M et al (2009) Microdroplet-based PCR enrichment for large-scale
targeted sequencing. Nat Biotechnol 27:1025-1031. doi: 10.1038/nbt.1583
Tizard R, Cate RL, Ramachandran KL et al (1990) Imaging of DNA sequences with chemilumi-
nescence. Proc Natl Acad Sci U S A 87:4514-4518
Valencia CA, Rhodenizer D, Bhide S et al (2012) Assessment of target enrichment platforms using
massively parallel sequencing for the mutation detection for congenital muscular dystrophy.
J Mol Diagn 14:233-246. doi: 10.1016/j.jmoldx.2012.01.009
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