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Performance comparison of exome DNA sequencing technologies.
Clark MJ , et al., Chen R, Lam HYK, Karczewski KJ, Chen R, Euskirchen G, Butte AJ, and Snyder M. hide all 
Nature biotechnology , -. | 25 Sep 2011 | Sequence Capture
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Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Liu P , et al., Erez A, Nagamani SCS, Dhar SU, Kołodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Hernández-Almaguer D, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SL, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, and Bi W. hide all 
Cell 146 (6), 889-903. | 16 Sep 2011 | CGH/CNV
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STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.
van de Veerdonk FL , et al., Plantinga TS, Hoischen A, Smeekens SP, Joosten LAB, Gilissen C, Arts P, Rosentul DC, Carmichael AJ, Smits-van der Graaf CAA, Kullberg BJ, van der Meer JWM, Lilic D, Veltman JA, and Netea MG. hide all 
The New England journal of medicine 365 (1), 54-61. | 7 Jul 2011 | Sequence Capture
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Exome Sequencing Reveals Comprehensive Genomic Alterations across Eight Cancer Cell Lines.
Chang H , et al., Jackson D, Kayne P, Ross-MacDonald P, Ryseck R, and Siemers N. hide all 
PloS one 6 (6), e21097. | 20 Jun 2011 | Sequence Capture
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Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Levy D , et al., Ronemus M, Yamrom B, Lee Y, Leotta A, Kendall J, Marks S, Lakshmi B, Pai D, Ye K, Buja A, Krieger A, Yoon S, Troge J, Rodgers L, Iossifov I, and Wigler M. hide all 
Neuron 70 (5), 886-897. | 9 Jun 2011 | CGH/CNV
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Comparative genomics of Escherichia coli strains causing urinary tract infections.
Vejborg RM , et al., Hancock V, Schembri MA, and Klemm P. hide all 
Applied and environmental microbiology 77 (10), 3268-3278. | May 2011 | CGH/CNV
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Complex X chromosome rearrangement delineated by array comparative genome hybridization in a woman with premature ovarian insufficiency.
Ochalski ME , et al., Engle N, Wakim A, Ravnan BJ, Hoffner L, Rajkovic A, and Surti U. hide all 
Fertility and sterility , -. | 28 Apr 2011 | CGH/CNV
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Performance assessment of copy number microarray platforms using a spike-in experiment
Halper-Stromberg E , et al., Frelin L, Ruczinski I, Scharpf R, Jie C, Carvalho B, Hao H, Hetrick K, Jedlicka A, Dziedzic A, Doheny K, Scott A, Baylin S, Pevsner J, Spencer F, and Irizarry R. hide all 
Bioinformatics 27 (8), -. | 15 Apr 2011 | CGH/CNV
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Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia.
Yan X , et al., Xu J, Gu Z, Pan C, Lu G, Shen Y, Shi J, Zhu Y, Tang L, Zhang X, Liang W, Mi J, Song H, Li K, Chen Z, and Chen S. hide all 
Nature Genetics 43 (4), 309-315. | 13 Mar 2011 | Sequence Capture
DNA Methylation
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Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia.
Glazov EA , et al., Zankl A, Donskoi M, Kenna TJ, Thomas GP, Clark GR, Duncan EL, and Brown MA. hide all 
PLoS genetics 7 (3), e1002027. | Mar 2011 | Sequence Capture
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