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Good laboratory practice for clinical next-generation sequencing informatics pipelines

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Figure 1: Model for tertiary analysis of sequence variants.

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Acknowledgements

This work was supported in part by an appointment to A.S.G. to the Research Participation Program at the Centers for Disease Control and Prevention, administered by the Oak Ridge Institute for Science and Education through an interagency agreement between the US Department of Energy and the CDC. H.L.R. was supported in part by National Institutes of Health grants U01HG006500 and U41HG006834. The findings and conclusions in this report are those of the authors and do not necessarily represent the views of the CDC, the Agency for Toxic Substances and Disease Registry or the FDA. Certain commercial equipment, instruments or materials are identified in this document. Such identification does not imply recommendation or endorsement by the CDC, the Agency for Toxic Substances and Disease Registry, the FDA or NIST, nor does it imply that the products identified are necessarily the best available for the purpose.

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Correspondence to Ira M Lubin.

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D.P.D. is at Children's Hospital of Wisconsin/Medical College of Wisconsin, offering fee-for-service genetic counseling and whole-genome and whole-exome sequencing services; has a consulting agreement with Illumina and Complete Genomics; and is founder and shareholder of Genomic Health Innovations, which provides fee-for-service genomic interpretation and consultation services. B.H.F. is at the Partners Healthcare Personalized Medicine fee-for-service laboratory performing next-generation sequencing, is on the advisory board at InVitae and is a consultant for InVitae and Phoenix Children's Hospital. S.G. is at Novartis Institutes for BioMedical Research. R.N. helped to start up commercialization of the Clinical Genomicist Workstation, developed at Washington University. E.A.W. is at the Medical College of Wisconsin, offering fee-for-service genetic counseling and whole-genome and whole-exome sequencing services, and is founder of and a shareholder in Genomic Health Innovations, which provides fee-for-service genomic interpretation and consultation services. D.M.C. is at Personalis Inc., a company that provides whole-genome and whole-exome sequencing, analysis and interpretation services. N.H. is at Quest Diagnostics. T.H. is employed by and a stockholder of Illumina, Inc. F.C.L.H. is at Thermo Fisher Scientific. M.R.M. is at SoftGenetics. T.K.M. is at Illumina. H.L.R. is at Partners Healthcare Personalized Medicine and is an advisory board member for Complete Genomics, Curovese, Knome, Omicia and Ingenuity/Qiagen. J.R. is at Regeneron Pharmaceuticals. R.B.R. is at GenomeQuest. L.-J.C.W. is vice president and senior laboratory director of Baylor-Miraca Genetics Laboratories, which offers next-generation sequencing–based fee-for-service genetic tests. T.M. is at Progenity Inc., a company that provides carrier screening services, and is a stockholder of Illumina.

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Gargis, A., Kalman, L., Bick, D. et al. Good laboratory practice for clinical next-generation sequencing informatics pipelines. Nat Biotechnol 33, 689–693 (2015). https://doi.org/10.1038/nbt.3237

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