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Original Research

Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing

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References

  • Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989;245(4922):1073-80
  • Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245(4922):1066-73
  • Rommens JM, Iannuzzi MC, Kerem B, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989;245(4922):1059-65
  • Cystic fibrosis mutation database. 2014. Available from: www.genet.sickkids.on.ca
  • Sosnay PR, Siklosi KR, Van Goor F, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet 2013;45:1160-7
  • Watson MS, Cutting GR, Desnick RJ, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004;6(5):387-91
  • Grody WW, Cutting GR, Watson MS. The Cystic fibrosis mutation “arms race”: when less is more. Genet Med 2007;9(11):739-44
  • Dorfman R, Nalpathamkalam T, Taylor C, et al. Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene? Clin Genet 2010;77(5):464-73
  • Chillon M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995;332(22):1475-80
  • Dequeker E, Stuhrmann M, Morris MA, et al. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations. Eur J Hum Genet 2009;17(1):51-65
  • Groman JD, Hefferon TW, Casals T, et al. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet 2004;74(1):176-9
  • Masica DL, Sosnay PR, Cutting GR, Karchin R. Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis. Hum Mutat 2012;33(8):1267-74
  • Grody WW, Cutting GR, Klinger KW, et al. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001;3(2):149-54
  • Clinical and Functional Translation of CFTR Project (CFTR2). 2014. Available from: www.cftr2.org
  • Castellani C, team C. CFTR2: how will it help care? Paediatr Respir Rev 2013;14(Suppl 1):2-5
  • Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: cystic Fibrosis Foundation consensus report. J Pediatr 2008;153(2):S4-14
  • Massie RJ, Curnow L, Glazner J, et al. Lessons learned from 20 years of newborn screening for cystic fibrosis. Med J Aust 2012;196(1):67-70
  • Southern KW, Munck A, Pollitt R, et al. A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros 2007;6(1):57-65
  • Vernooij-van Langen AM, Loeber JG, Elvers B, et al. Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study. Thorax 2012;67(4):289-95
  • Wagener JS, Zemanick ET, Sontag MK. Newborn screening for cystic fibrosis. Curr Opin Pediatr 2012;24(3):329-35
  • Amos JGF, Wayne Grody, Kristen Monaghan, et al. Technical standards and guidelines for CFTR mutation testing. American College of Medical Genetics; 2002
  • Strom CM, Crossley B, Buller-Buerkle A, et al. Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis. Genet Med 2011;13(2):166-72
  • Ramsey BW, Davies J, McElvaney NG, et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med 2011;365(18):1663-72
  • Thursfield RM, Davies JC. Cystic fibrosis: therapies targeting specific gene defects. Paediatr Respir Rev 2012;13(4):215-19
  • Ramos MD, Masvidal L, Gimenez J, et al. CFTR rearrangements in Spanish cystic fibrosis patients: first new duplication (35kb) characterised in the Mediterranean countries. Ann Hum Genet 2010;74(5):463-9
  • Harismendy O, Ng PC, Strausberg RL, et al. Evaluation of next generation sequencing platforms for population targeted sequencing studies. Genome Biol 2009;10(3):R32
  • Pont-Kingdon G, Gedge F, Wooderchak-Donahue W, et al. Design and analytical validation of clinical DNA sequencing assays. Arch Pathol Lab Med 2012;136(1):41-6
  • Diguistini S, Liao NY, Platt D, et al. De novo genome sequence assembly of a filamentous fungus using Sanger, 454 and Illumina sequence data. Genome Biol 2009;10(9):R94
  • Sikkema-Raddatz B, Johansson LF, de Boer EN, et al. Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. Hum Mutat 2013;34(7):1035-42
  • Bentley DR, Balasubramanian S, Swerdlow HP, et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 2008;456(7218):53-9
  • Illumina. TruSeq® Custom Amplicon Library Preparation Guide. 2012. Available from: http://supportres.illumina.com/documents/myillumina/b718c350-b3b2-4234-b71a-0b832f14cda3/truseq_custom_amplicon_libraryprep_ug_15027983_b.pdf
  • Mardis ER. Next-generation DNA sequencing methods. Ann Rev Genomics Hum Genet 2008;9:387-402
  • Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet. 2010;11(1):31-46
  • Raczy C, Petrovski R, Saunders CT, et al. Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms. Bioinformatics 2013;29(16):2041-3
  • Costa C, Goossens M, Girodon E. Simultaneous molecular haplotyping of both IVS8 (TG)m and (T)n tracts in the CFTR gene: still a challenge. Clin Chem 2006;52(8):1621-2
  • Ng SB, Bigham AW, Buckingham KJ, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010;42(9):790-3
  • Saunders CJ, Miller NA, Soden SE, et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med 2012;4(154):154ra135
  • Trujillano D, Ramos MD, Gonzalez J, et al. Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR. J Med Genet 2013;50(7):455-62
  • Knowles MR, Leigh MW, Ostrowski LE, et al. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet 2013;92(1):99-106
  • Lemke JR, Riesch E, Scheurenbrand T, et al. Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 2012;53(8):1387-98
  • Rohlfs EM, Zhou Z, Heim RA, et al. Cystic fibrosis carrier testing in an ethnically diverse US population. Clin Chem 2011;57(6):841-8
  • Grody WW, Thompson BH, Gregg AR, et al. ACMG position statement on prenatal/preconception expanded carrier screening. Genet Med 2013;15(6):482-3
  • Rehm HL, Bale SJ, Bayrak-Toydemir P, et al. ACMG clinical laboratory standards for next-generation sequencing. Genet Med 2013;15(9):733-47
  • Ong FS, Lin JC, Das K, et al. Translational utility of next-generation sequencing. Genomics 2013;102(3):137-9
  • Collins FS, Hamburg MA. First FDA authorization for next-generation sequencer. N Engl J Med 2013;369(25):2369-71

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