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         8.  de Jong H. Visualizing DNA domains and sequences by microscopy: a   25.  Kennedy GC, Matsuzaki H, Dong S, et al. Large-scale genotyping of
           fifty-year history of molecular cytogenetics. Genome 2003;46:943–6.  complex DNA. Nat Biotechnol 2003;21:1233–7.
         9.  Coughlin CR 2nd, Scharer GH, Shaikh TH. Clinical impact of copy   26.  Gunderson KL, Steemers FJ, Lee G, et al. A genome-wide scalable SNP
           number variation analysis using high-resolution microarray technologies:   genotyping assay using microarray technology. Nat Genet
           advantages, limitations and concerns. Genome Med 2012;4:80.  2005;37:549–54.
        10.  Martin CL, Kirkpatrick BE, Ledbetter DH. Copy number variants,   27.  Strom CM. Mutation detection, interpretation, and applications in the
           aneuploidies, and human disease. Clin Perinatol 2015;42:227–42, vii.  clinical laboratory setting. Mutat Res 2005;573:160–7.
        11.  Shendure J, Akey JM. The origins, determinants, and consequences of   28.  Bentley DR, Balasubramanian S, Swerdlow HP, et al. Accurate whole
           human mutations. Science 2015;349:1478–83.             human genome sequencing using reversible terminator chemistry. Nature
        12.  Mullaney JM, Mills RE, Pittard WS, et al. Small insertions and    2008;456:53–9.
           deletions (INDELs) in human genomes. Hum Mol Genet 2010;19:   29.  Rothberg JM, Hinz W, Rearick TM, et al. An integrated semiconductor
           R131–6.                                                device enabling non-optical genome sequencing. Nature 2011;475:348–52.
        13.  Budworth H, McMurray CT. A brief history of triplet repeat diseases.   30.  Goodwin S, McPherson JD, McCombie WR. Coming of age: ten years of
           Methods Mol Biol 2013;1010:3–17.                       next-generation sequencing technologies. Nat Rev Genet 2016;17:333–51.
        14.  Fragouli E, Wells D, Delhanty JD. Chromosome abnormalities in the   31.  Stoloff DH, Wanunu M. Recent trends in nanopores for biotechnology.
           human oocyte. Cytogenet Genome Res 2011;133:107–18.    Curr Opin Biotechnol 2013;24:699–704.
        15.  Jones KT, Lane SI. Molecular causes of aneuploidy in mammalian eggs.   32.  Roller E, Ivakhno S, Lee S, et al. Canvas: versatile and scalable detection
           Development 2013;140:3719–30.                          of copy number variants. Bioinformatics 2016;32:2375–7.
        16.  Campbell CD, Eichler EE. Properties and rates of germline mutations in   33.  Kircher M, Witten DM, Jain P, et al. A general framework for estimating
           humans. Trends Genet 2013;29:575–84.                   the relative pathogenicity of human genetic variants. Nat Genet
        17.  Segurel L, Wyman MJ, Przeworski M. Determinants of mutation rate   2014;46:310–15.
           variation in the human germline. Annu Rev Genomics Hum Genet   34.  Richards S, Aziz N, Bale S, et al. Standards and guidelines for the
           2014;15:47–70.                                         interpretation of sequence variants: a joint consensus recommendation of
        18.  Belmont JW. Genetic control of X inactivation and processes leading to   the American College of Medical Genetics and Genomics and the
           X-inactivation skewing. Am J Hum Genet 1996;58:1101–8.  Association for Molecular Pathology. Genet Med 2015;17:405–24.
        19.  Liehr T, Weise A, Hamid AB, et al. Multicolor FISH methods in current   35.  Byers PH. Molecular genetic pathology. Coming of age in the molecular
           clinical diagnostics. Expert Rev Mol Diagn 2013;13:251–5.  world. Am J Pathol 1999;155:673–4.
        20.  Barrett MT, Scheffer A, Ben-Dor A, et al. Comparative genomic   36.  Rivers PA, Dobalian A, Germinario FA. A review and analysis of the
           hybridization using oligonucleotide microarrays and total genomic DNA.   clinical laboratory improvement amendment of 1988: compliance plans
           Proc Natl Acad Sci USA 2004;101:17765–70.              and enforcement policy. Health Care Manage Rev 2005;30:93–102.
        21.  Lipshutz RJ, Fodor SP, Gingeras TR, et al. High density synthetic   37.  Worthey EA, Mayer AN, Syverson GD, et al. Making a definitive
           oligonucleotide arrays. Nat Genet 1999;21:20–4.        diagnosis: successful clinical application of whole exome sequencing in a
        22.  Peiffer DA, Le JM, Steemers FJ, et al. High-resolution genomic profiling   child with intractable inflammatory bowel disease. Genet Med
           of chromosomal aberrations using Infinium whole-genome genotyping.   2011;13:255–62.
           Genome Res 2006;16(9):1136–48.                      38.  Routes JM, Grossman WJ, Verbsky J, et al. Statewide newborn screening
        23.  Cooper GM, Zerr T, Kidd JM, et al. Systematic assessment of copy   for severe T-cell lymphopenia. JAMA 2009;302:2465–70.
           number variant detection via genome-wide SNP genotyping. Nat Genet   39.  Verbsky JW, Baker MW, Grossman WJ, et al. Newborn screening for
           2008;40:1199–203.                                      severe combined immunodeficiency; the Wisconsin experience
        24.  Fan JB, Chee MS, Gunderson KL. Highly parallel genomic assays. Nat Rev   (2008-2011). J Clin Immunol 2012;32:82–8.
           Genet 2006;7:632–44.
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