Future of whole genome sequencing.

作者: David J Amor

DOI: 10.1111/JPC.12634

关键词:

摘要: The era of genomic medicine, anticipated since the completion Human Genome Project in 2003, is now upon us. Before long, information will be an integral part medical record, and paediatricians able to interrogate these data for a range purposes: make diagnosis sick child, diagnose or exclude rare genetic disorder, identify anticipate future health problems, increase precision medication prescribing. At heart medicine use data, derived from whole human genome, better diagnose, predict treat disease. availability clinical-level sequencing analysis genome predicted transform many aspects paediatric over next 5 years may ultimately become as routine serum biochemistry.

参考文章(24)
Matthew W. Snyder, LaVone E. Simmons, Jacob O. Kitzman, Donna A. Santillan, Mark K. Santillan, Hilary S. Gammill, Jay Shendure, Noninvasive fetal genome sequencing: a primer. Prenatal Diagnosis. ,vol. 33, pp. 547- 554 ,(2013) , 10.1002/PD.4097
T. J. Dixon-Salazar, J. L. Silhavy, N. Udpa, J. Schroth, S. Bielas, A. E. Schaffer, J. Olvera, V. Bafna, M. S. Zaki, G. H. Abdel-Salam, L. A. Mansour, L. Selim, S. Abdel-Hadi, N. Marzouki, T. Ben-Omran, N. A. Al-Saana, F. M. Sonmez, F. Celep, M. Azam, K. J. Hill, A. Collazo, A. G. Fenstermaker, G. Novarino, N. Akizu, K. V. Garimella, C. Sougnez, C. Russ, S. B. Gabriel, J. G. Gleeson, Exome Sequencing Can Improve Diagnosis and Alter Patient Management robotics and applications. ,vol. 4, ,(2012) , 10.1126/SCITRANSLMED.3003544
Yuval E. Landau, Uta Lichter-Konecki, Harvey L. Levy, Genomics in newborn screening. The Journal of Pediatrics. ,vol. 164, pp. 14- 19 ,(2014) , 10.1016/J.JPEDS.2013.07.028
Catarina D. Campbell, Evan E. Eichler, Properties and rates of germline mutations in humans Trends in Genetics. ,vol. 29, pp. 575- 584 ,(2013) , 10.1016/J.TIG.2013.04.005
Kym M Boycott, Megan R Vanstone, Dennis E Bulman, Alex E MacKenzie, None, Rare-disease genetics in the era of next-generation sequencing: discovery to translation Nature Reviews Genetics. ,vol. 14, pp. 681- 691 ,(2013) , 10.1038/NRG3555
Heidi L. Rehm, Disease-targeted sequencing: a cornerstone in the clinic Nature Reviews Genetics. ,vol. 14, pp. 295- 300 ,(2013) , 10.1038/NRG3463
Seema M. Jamal, Joon-Ho Yu, Jessica X. Chong, Karin M. Dent, Jessie H. Conta, Holly K. Tabor, Michael J. Bamshad, Practices and policies of clinical exome sequencing providers: analysis and implications. American Journal of Medical Genetics Part A. ,vol. 161, pp. 935- 950 ,(2013) , 10.1002/AJMG.A.35942
Frederick E. Dewey, Megan E. Grove, Cuiping Pan, Benjamin A. Goldstein, Jonathan A. Bernstein, Hassan Chaib, Jason D. Merker, Rachel L. Goldfeder, Gregory M. Enns, Sean P. David, Neda Pakdaman, Kelly E. Ormond, Colleen Caleshu, Kerry Kingham, Teri E. Klein, Michelle Whirl-Carrillo, Kenneth Sakamoto, Matthew T. Wheeler, Atul J. Butte, James M. Ford, Linda Boxer, John P. A. Ioannidis, Alan C. Yeung, Russ B. Altman, Themistocles L. Assimes, Michael Snyder, Euan A. Ashley, Thomas Quertermous, Clinical Interpretation and Implications of Whole-Genome Sequencing JAMA. ,vol. 311, pp. 1035- 1045 ,(2014) , 10.1001/JAMA.2014.1717
Eric D. Green, , Mark S. Guyer, Charting a course for genomic medicine from base pairs to bedside Nature. ,vol. 470, pp. 204- 213 ,(2011) , 10.1038/NATURE09764
Daniel C. Koboldt, Karyn Meltz Steinberg, David E. Larson, Richard K. Wilson, Elaine R. Mardis, The Next-Generation Sequencing Revolution and Its Impact on Genomics Cell. ,vol. 155, pp. 27- 38 ,(2013) , 10.1016/J.CELL.2013.09.006