Biomedical Engineering Reference
In-Depth Information
Lin X, Tang W, Ahmad S et al (2012) Applications of targeted gene capture and next-generation
sequencing technologies in studies of human deafness and other genetic disabilities. Hear Res
288:67-76. doi: 10.1016/j.heares.2012.01.004
Liu L, Li Y, Li S et al (2012) Comparison of next-generation sequencing systems. J Biomed
Biotechnol 2012:251364. doi: 10.1155/2012/251364
Mardis ER (2008) The impact of next-generation sequencing technology on genetics. Trends
Genet 24:133-141. doi : 10.1016/j.tig.2007.12.007
Margulies M, Egholm M, Altman WE et al (2005) Genome sequencing in microfabricated high-
density picolitre reactors. Nature 437:376-380. doi: 10.1038/nature03959
Maxam AM, Gilbert W (1977) A new method for sequencing DNA. Proc Natl Acad Sci U S A
Musunuru K, Pirruccello JP, Do R et al (2010) Exome sequencing, ANGPTL3 mutations, and
familial combined hypolipidemia. N Engl J Med 363:2220-2227. doi: 10.1056/NEJMoa1002926
Ng SB, Bigham AW, Buckingham KJ et al (2010a) Exome sequencing identifi es MLL2 mutations
as a cause of Kabuki syndrome. Nat Genet 42:790-793. doi: 10.1038/ng.646
Ng SB, Buckingham KJ, Lee C et al (2010b) Exome sequencing identifi es the cause of a mende-
lian disorder. Nat Genet 42:30-35. doi: 10.1038/ng.499
Nielsen R, Paul JS, Albrechtsen A, Song YS (2011) Genotype and SNP calling from next-
generation sequencing data. Nat Rev Genet 12:443-451. doi: 10.1038/nrg2986
Nikopoulos K, Gilissen C, Hoischen A et al (2010) Next-generation sequencing of a 40 Mb link-
age interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.
Am J Hum Genet 86:240-247. doi: 10.1016/j.ajhg.2009.12.016
Nothnagel M, Herrmann A, Wolf A et al (2011) Technology-specifi c error signatures in the 1000
Genomes Project data. Hum Genet 130:505-516. doi: 10.1007/s00439-011-0971-3
Otto EA, Hurd TW, Airik R et al (2010) Candidate exome capture identifi es mutation of SDCCAG8
as the cause of a retinal-renal ciliopathy. Nat Genet 42:840-850. doi: 10.1038/ng.662
Pierce SB, Walsh T, Chisholm KM et al (2010) Mutations in the DBP-defi ciency protein HSD17B4
cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet
87:282-288. doi: 10.1016/j.ajhg.2010.07.007
Puente XS, Quesada V, Osorio FG et al (2011) Exome sequencing and functional analysis identi-
fi es BANF1 mutation as the cause of a hereditary progeroid syndrome. Am J Hum Genet
88:650-656. doi: 10.1016/j.ajhg.2011.04.010
Rehman AU, Morell RJ, Belyantseva IA et al (2010) Targeted capture and next-generation
sequencing identifi es C9orf75, encoding taperin, as the mutated gene in nonsyndromic deaf-
ness DFNB79. Am J Hum Genet 86:378-388. doi: 10.1016/j.ajhg.2010.01.030
Rothberg JM, Hinz W, Rearick TM et al (2011) An integrated semiconductor device enabling non-
optical genome sequencing. Nature 475:348-352. doi: 10.1038/nature10242
Ruffalo M, LaFramboise T, Koyutürk M (2011) Comparative analysis of algorithms for next-
generation sequencing read alignment. Bioinformatics (Oxf Engl) 27:2790-2796. doi: 10.1093/
Ruparel H, Bi L, Li Z et al (2005) Design and synthesis of a 3'-O-allyl photocleavable fl uorescent
nucleotide as a reversible terminator for DNA sequencing by synthesis. Proc Natl Acad Sci U
S A 102:5932-5937. doi: 10.1073/pnas.0501962102
Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc
Natl Acad Sci U S A 74:5463-5467
Shendure J, Porreca GJ, Reppas NB et al (2005) Accurate multiplex polony sequencing of an
evolved bacterial genome. Science 309:1728-1732. doi: 10.1126/science.1117389
Shoubridge C, Tarpey PS, Abidi F et al (2010) Mutations in the guanine nucleotide exchange fac-
tor gene IQSEC2 cause nonsyndromic intellectual disability. Nat Genet 42:486-488.
doi: 10.1038/ng.588
Simpson MA, Irving MD, Asilmaz E et al (2011) Mutations in NOTCH2 cause Hajdu-Cheney syn-
drome, a disorder of severe and progressive bone loss. Nat Genet 43:303-305. doi : 10.1038/ng.779
Voelkerding KV, Dames SA, Durtschi JD (2009) Next-generation sequencing: from basic research
to diagnostics. Clin Chem 55:641-658. doi : 10.1373/clinchem.2008.112789
Search WWH ::

Custom Search