ACMG clinical laboratory standards for next-generation sequencing.
作者： Heidi L Rehm , Sherri J Bale , Pinar Bayrak-Toydemir , Jonathan S Berg , Kerry K Brown
DOI: 10.1038/GIM.2013.92
关键词: Exome sequencing 、 Genetic testing 、 Biology 、 Professional standards 、 Data science 、 Genomics 、 Genomic medicine 、 Therapeutic decision making 、 Bioinformatics 、 DNA sequencing 、 Exome
摘要: … the scope of this document but are available in a separate set of ACMG Recommendations. … by the Board of the ACMG. This document was approved by the ACMG Board of Directors, …
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rigenetics.com参考文章(21)
Shahram Shahangian, Joe D Boone, MariBeth Gagnon, Nancy L Anderson, Bin Chen, Devery A Howerton, Good laboratory practices for molecular genetic testing for heritable diseases and conditions. MMWR. Recommendations and reports : Morbidity and mortality weekly report. Recommendations and reports / Centers for Disease Control. ,vol. 58, pp. 1- 4 ,(2009)
C. Ledergerber, C. Dessimoz, Base-calling for next-generation sequencing platforms Briefings in Bioinformatics. ,vol. 12, pp. 489- 497 ,(2011) , 10.1093/BIB/BBQ077
Elizabeth T Cirulli, Abanish Singh, Kevin V Shianna, Dongliang Ge, Jason P Smith, Jessica M Maia, Erin L Heinzen, James J Goedert, David B Goldstein, , Screening the human exome: a comparison of whole genome and whole transcriptome sequencing. Genome Biology. ,vol. 11, pp. 1- 8 ,(2010) , 10.1186/GB-2010-11-5-R57
Katharine M. Brauch, Margaret L. Karst, Kathleen J. Herron, Mariza de Andrade, Patricia A. Pellikka, Richard J. Rodeheffer, Virginia V. Michels, Timothy M. Olson, Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy Journal of the American College of Cardiology. ,vol. 54, pp. 930- 941 ,(2009) , 10.1016/J.JACC.2009.05.038
C Sue Richards, Sherri Bale, Daniel B Bellissimo, Soma Das, Wayne W Grody, Madhuri R Hegde, Elaine Lyon, Brian E Ward, None, ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007 Genetics in Medicine. ,vol. 10, pp. 294- 300 ,(2008) , 10.1097/GIM.0B013E31816B5CAE
William A. Gahl, Thomas C. Markello, Camilo Toro, Karin Fuentes Fajardo, Murat Sincan, Fred Gill, Hannah Carlson-Donohoe, Andrea Gropman, Tyler Mark Pierson, Gretchen Golas, Lynne Wolfe, Catherine Groden, Rena Godfrey, Michele Nehrebecky, Colleen Wahl, Dennis M.D. Landis, Sandra Yang, Anne Madeo, James C. Mullikin, Cornelius F. Boerkoel, Cynthia J. Tifft, David Adams, The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases Genetics in Medicine. ,vol. 14, pp. 51- 59 ,(2011) , 10.1038/GIM.0B013E318232A005
Anne Maddalena, Sherri Bale, Soma Das, Wayne Grody, Sue Richards, None, Technical standards and guidelines: molecular genetic testing for ultra-rare disorders. Genetics in Medicine. ,vol. 7, pp. 571- 583 ,(2005) , 10.1097/01.GIM.0000182738.95726.CA
Duanxiang Li, Ana Morales, Jorge Gonzalez-Quintana, Nadine Norton, Jill D. Siegfried, Mark Hofmeyer, Ray E. Hershberger, Identification of Novel Mutations in RBM20 in Patients with Dilated Cardiomyopathy Clinical and Translational Science. ,vol. 3, pp. 90- 97 ,(2010) , 10.1111/J.1752-8062.2010.00198.X
C. J. Bell, D. L. Dinwiddie, N. A. Miller, S. L. Hateley, E. E. Ganusova, J. Mudge, R. J. Langley, L. Zhang, C. C. Lee, F. D. Schilkey, V. Sheth, J. E. Woodward, H. E. Peckham, G. P. Schroth, R. W. Kim, S. F. Kingsmore, Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing Science Translational Medicine. ,vol. 3, ,(2011) , 10.1126/SCITRANSLMED.3001756
H. Li, N. Homer, A survey of sequence alignment algorithms for next-generation sequencing. Briefings in Bioinformatics. ,vol. 11, pp. 473- 483 ,(2010) , 10.1093/BIB/BBQ015