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Wang X, Wang H, Sun V, Tuan H-F, Keser V, Wang K, Ren H, Lopez I, Zaneveld JE, Siddiqui S, Bowles S, Khan A, Salvo J, Jacobson SG, Iannaccone A, Wang F, Birch D, Heckenlively JR, Fishman GA, Traboulsi EI, Li Y, Wheaton D, Koenekoop RK, Chen R. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. J Med Genet. 2013 ;50(10):674-88.
Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen Y-J, Makhijani V, G Roth T, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song X-Z, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 ;452(7189):872-6.
Coarfa C, Milosavljevic A. Pash 2.0: scaleable sequence anchoring for next-generation sequencing technologies. Pac Symp Biocomput. 2008 ;:102-13.
Yao J, Lin H, Van Deynze A, Doddapaneni HV, Francis M, Lemos EGertrudes, Civerolo EL. PrimerSNP: a web tool for whole-genome selection of allele-specific and common primers of phylogenetically-related bacterial genomic sequences. BMC Microbiol. 2008 ;8:185.
Lewis EK, Haaland WC, Nguyen F, Heller DA, Allen MJ, MacGregor RR, C Berger S, Willingham B, Burns LA, Scott GBI, Kittrell C, Johnson BR, Curl RF, Metzker ML. Color-blind fluorescence detection for four-color DNA sequencing. Proc Natl Acad Sci U S A. 2005 ;102(15):5346-51.
Zhang J, Wheeler DA, Yakub I, Wei S, Sood R, Rowe W, Liu PP, Gibbs RA, Buetow KH. SNPdetector: a software tool for sensitive and accurate SNP detection. PLoS Comput Biol. 2005 ;1(5):e53.
Ding L, Sabo A, Berkowicz N, Meyer RR, Shotland Y, Johnson MR, Pepin KH, Wilson RK, Spieth J. EAnnot: a genome annotation tool using experimental evidence. Genome Res. 2004 ;14(12):2503-9.
Finishing the euchromatic sequence of the human genome. Nature. 2004 ;431(7011):931-45.
Kalafus KJ, Jackson AR, Milosavljevic A. Pash: efficient genome-scale sequence anchoring by Positional Hashing. Genome Res. 2004 ;14(4):672-8.
Wei A, Yuan A, Fawcett G, Butler A, Davis T, Xu S-yong, Salkoff L. Efficient isolation of targeted Caenorhabditis elegans deletion strains using highly thermostable restriction endonucleases and PCR. Nucleic Acids Res. 2002 ;30(20):e110.
Metzker ML, Lu J, Gibbs RA. Electrophoretically uniform fluorescent dyes for automated DNA sequencing. Science. 1996 ;271(5254):1420-2.