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Which Results to Return: Subjective Judgments in Selecting Medically Actionable Genes.

Genetic testing and molecular biomarkers

Lázaro-Muñoz G, Conley JM, Davis AM, Prince AE, Cadigan RJ.
PMID: 28146641
Genet Test Mol Biomarkers. 2017 Mar;21(3):184-194. doi: 10.1089/gtmb.2016.0397. Epub 2017 Feb 01.

BACKGROUND: Advances in genomics have led to calls for returning information about medically actionable genes (MAGs) to patients, research subjects, biobank participants, and through screening programs, the general adult population. Which MAGs are returned affects the harms and benefits...

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Lázaro-Muñoz G, Conley JM, Davis AM, et al. Which Results to Return: Subjective Judgments in Selecting Medically Actionable Genes. Genet Test Mol Biomarkers. 2017;21(3):184-194doi: 10.1089/gtmb.2016.0397.
Lázaro-Muñoz, G., Conley, J. M., Davis, A. M., Prince, A. E., & Cadigan, R. J. (2017). Which Results to Return: Subjective Judgments in Selecting Medically Actionable Genes. Genetic testing and molecular biomarkers, 21(3), 184-194. https://doi.org/10.1089/gtmb.2016.0397
Lázaro-Muñoz, Gabriel, et al. "Which Results to Return: Subjective Judgments in Selecting Medically Actionable Genes." Genetic testing and molecular biomarkers vol. 21,3 (2017): 184-194. doi: https://doi.org/10.1089/gtmb.2016.0397
Lázaro-Muñoz G, Conley JM, Davis AM, Prince AE, Cadigan RJ. Which Results to Return: Subjective Judgments in Selecting Medically Actionable Genes. Genet Test Mol Biomarkers. 2017 Mar;21(3):184-194. doi: 10.1089/gtmb.2016.0397. Epub 2017 Feb 01. PMID: 28146641; PMCID: PMC5367906.
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Consumer genomics will change your life, whether you get tested or not.

Genome biology

Khan R, Mittelman D.
PMID: 30124172
Genome Biol. 2018 Aug 20;19(1):120. doi: 10.1186/s13059-018-1506-1.

With more than 10 million genotyped customers, the consumer genomics industry is maturing and becoming a mainstream phenomenon. At last, innovations and applications, some unforeseen, are being brought to the masses.

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Khan R, Mittelman D. Consumer genomics will change your life, whether you get tested or not. Genome Biol. 2018;19(1):120doi: 10.1186/s13059-018-1506-1.
Khan, R., & Mittelman, D. (2018). Consumer genomics will change your life, whether you get tested or not. Genome biology, 19(1), 120. https://doi.org/10.1186/s13059-018-1506-1
Khan, Razib, and Mittelman, David. "Consumer genomics will change your life, whether you get tested or not." Genome biology vol. 19,1 (2018): 120. doi: https://doi.org/10.1186/s13059-018-1506-1
Khan R, Mittelman D. Consumer genomics will change your life, whether you get tested or not. Genome Biol. 2018 Aug 20;19(1):120. doi: 10.1186/s13059-018-1506-1. PMID: 30124172; PMCID: PMC6100720.
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The complex effects of demographic history on the estimation of substitution rate: concatenated gene analysis results in no more than twofold overestimation.

Proceedings. Biological sciences

Martin CH, Höhna S, Crawford JE, Turner BJ, Richards EJ, Simons LH.
PMID: 28814654
Proc Biol Sci. 2017 Aug 16;284(1860). doi: 10.1098/rspb.2017.0537.

No abstract available.

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Martin CH, Höhna S, Crawford JE, et al. The complex effects of demographic history on the estimation of substitution rate: concatenated gene analysis results in no more than twofold overestimation. Proc Biol Sci. 2017;284(1860)doi: 10.1098/rspb.2017.0537.
Martin, C. H., Höhna, S., Crawford, J. E., Turner, B. J., Richards, E. J., & Simons, L. H. (2017). The complex effects of demographic history on the estimation of substitution rate: concatenated gene analysis results in no more than twofold overestimation. Proceedings. Biological sciences, 284(1860), . https://doi.org/10.1098/rspb.2017.0537
Martin, Christopher H, et al. "The complex effects of demographic history on the estimation of substitution rate: concatenated gene analysis results in no more than twofold overestimation." Proceedings. Biological sciences vol. 284,1860 (2017). doi: https://doi.org/10.1098/rspb.2017.0537
Martin CH, Höhna S, Crawford JE, Turner BJ, Richards EJ, Simons LH. The complex effects of demographic history on the estimation of substitution rate: concatenated gene analysis results in no more than twofold overestimation. Proc Biol Sci. 2017 Aug 16;284(1860). doi: 10.1098/rspb.2017.0537. PMID: 28814654; PMCID: PMC5563795.
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FDA Approves Direct-to-Consumer Cancer Genomics.

Missouri medicine

Eissenberg JC.
PMID: 30228700
Mo Med. 2018 Mar-Apr;115(2):126.

No abstract available.

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Eissenberg JC. FDA Approves Direct-to-Consumer Cancer Genomics. Mo Med. 2018;115(2):126
Eissenberg, J. C. (2018). FDA Approves Direct-to-Consumer Cancer Genomics. Missouri medicine, 115(2), 126.
Eissenberg, Joel C. "FDA Approves Direct-to-Consumer Cancer Genomics." Missouri medicine vol. 115,2 (2018): 126.
Eissenberg JC. FDA Approves Direct-to-Consumer Cancer Genomics. Mo Med. 2018 Mar-Apr;115(2):126. PMID: 30228700; PMCID: PMC6139858.
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Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.

The Journal of molecular diagnostics : JMD

Jennings LJ, Arcila ME, Corless C, Kamel-Reid S, Lubin IM, Pfeifer J, Temple-Smolkin RL, Voelkerding KV, Nikiforova MN.
PMID: 28341590
J Mol Diagn. 2017 May;19(3):341-365. doi: 10.1016/j.jmoldx.2017.01.011. Epub 2017 Mar 21.

Next-generation sequencing (NGS) methods for cancer testing have been rapidly adopted by clinical laboratories. To establish analytical validation best practice guidelines for NGS gene panel testing of somatic variants, a working group was convened by the Association of Molecular...

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Jennings LJ, Arcila ME, Corless C, et al. Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists. J Mol Diagn. 2017;19(3):341-365doi: 10.1016/j.jmoldx.2017.01.011.
Jennings, L. J., Arcila, M. E., Corless, C., Kamel-Reid, S., Lubin, I. M., Pfeifer, J., Temple-Smolkin, R. L., Voelkerding, K. V., & Nikiforova, M. N. (2017). Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists. The Journal of molecular diagnostics : JMD, 19(3), 341-365. https://doi.org/10.1016/j.jmoldx.2017.01.011
Jennings, Lawrence J, et al. "Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists." The Journal of molecular diagnostics : JMD vol. 19,3 (2017): 341-365. doi: https://doi.org/10.1016/j.jmoldx.2017.01.011
Jennings LJ, Arcila ME, Corless C, Kamel-Reid S, Lubin IM, Pfeifer J, Temple-Smolkin RL, Voelkerding KV, Nikiforova MN. Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists. J Mol Diagn. 2017 May;19(3):341-365. doi: 10.1016/j.jmoldx.2017.01.011. Epub 2017 Mar 21. PMID: 28341590; PMCID: PMC6941185.
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Too much of a good thing? Overdiagnosis, or overestimating risk in preventive genomic screening.

Personalized medicine

Meagher KM, Berg JS.
PMID: 30260288
Per Med. 2018 Sep;15(5):343-346. doi: 10.2217/pme-2018-0041. Epub 2018 Sep 27.

No abstract available.

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Meagher KM, Berg JS. Too much of a good thing? Overdiagnosis, or overestimating risk in preventive genomic screening. Per Med. 2018;15(5):343-346doi: 10.2217/pme-2018-0041.
Meagher, K. M., & Berg, J. S. (2018). Too much of a good thing? Overdiagnosis, or overestimating risk in preventive genomic screening. Personalized medicine, 15(5), 343-346. https://doi.org/10.2217/pme-2018-0041
Meagher, Karen M, and Berg, Jonathan S. "Too much of a good thing? Overdiagnosis, or overestimating risk in preventive genomic screening." Personalized medicine vol. 15,5 (2018): 343-346. doi: https://doi.org/10.2217/pme-2018-0041
Meagher KM, Berg JS. Too much of a good thing? Overdiagnosis, or overestimating risk in preventive genomic screening. Per Med. 2018 Sep;15(5):343-346. doi: 10.2217/pme-2018-0041. Epub 2018 Sep 27. PMID: 30260288.
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Reconceptualizing harms and benefits in the genomic age.

Personalized medicine

Prince AER, Berkman BE.
PMID: 30260295
Per Med. 2018 Sep;15(5):419-428. doi: 10.2217/pme-2018-0022. Epub 2018 Sep 27.

As new, high-powered sequencing technologies are increasingly incorporated into genomics research, we believe that there has been a break point in how risks and benefits associated with genetic information are being characterized and understood. Genomic sequencing provides the potential...

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Prince AER, Berkman BE. Reconceptualizing harms and benefits in the genomic age. Per Med. 2018;15(5):419-428doi: 10.2217/pme-2018-0022.
Prince, A. E. R., & Berkman, B. E. (2018). Reconceptualizing harms and benefits in the genomic age. Personalized medicine, 15(5), 419-428. https://doi.org/10.2217/pme-2018-0022
Prince, Anya E R, and Berkman, Benjamin E. "Reconceptualizing harms and benefits in the genomic age." Personalized medicine vol. 15,5 (2018): 419-428. doi: https://doi.org/10.2217/pme-2018-0022
Prince AER, Berkman BE. Reconceptualizing harms and benefits in the genomic age. Per Med. 2018 Sep;15(5):419-428. doi: 10.2217/pme-2018-0022. Epub 2018 Sep 27. PMID: 30260295; PMCID: PMC6295320.
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[Standards and regulations for reporting clinical genetic testing results in the United States].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Dai Z, Huang J, Wei S, Song C, Gu S, Wang W, Shen J.
PMID: 30722095
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jan 10;36(1):65-91. doi: 10.3760/cma.j.issn.1003-9406.2019.01.011.

No abstract available.

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Dai Z, Huang J, Wei S, et al. [Standards and regulations for reporting clinical genetic testing results in the United States]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019;36(1):65-91doi: 10.3760/cma.j.issn.1003-9406.2019.01.011.
Dai, Z., Huang, J., Wei, S., Song, C., Gu, S., Wang, W., & Shen, J. (2019). [Standards and regulations for reporting clinical genetic testing results in the United States]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 36(1), 65-91. https://doi.org/10.3760/cma.j.issn.1003-9406.2019.01.011
Dai, Zunyan, et al. "[Standards and regulations for reporting clinical genetic testing results in the United States]." Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 36,1 (2019): 65-91. doi: https://doi.org/10.3760/cma.j.issn.1003-9406.2019.01.011
Dai Z, Huang J, Wei S, Song C, Gu S, Wang W, Shen J. [Standards and regulations for reporting clinical genetic testing results in the United States]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jan 10;36(1):65-91. doi: 10.3760/cma.j.issn.1003-9406.2019.01.011. Chinese. PMID: 30722095.
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Functional genomics: Shining a light on genetic screen strategies.

Nature reviews. Genetics

Burgess DJ.
PMID: 29129919
Nat Rev Genet. 2018 Jan;19(1):6-7. doi: 10.1038/nrg.2017.99. Epub 2017 Nov 13.

No abstract available.

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Burgess DJ. Functional genomics: Shining a light on genetic screen strategies. Nat Rev Genet. 2017;19(1):6-7doi: 10.1038/nrg.2017.99.
Burgess, D. J. (2018). Functional genomics: Shining a light on genetic screen strategies. Nature reviews. Genetics, 19(1), 6-7. https://doi.org/10.1038/nrg.2017.99
Burgess, Darren J. "Functional genomics: Shining a light on genetic screen strategies." Nature reviews. Genetics vol. 19,1 (2018): 6-7. doi: https://doi.org/10.1038/nrg.2017.99
Burgess DJ. Functional genomics: Shining a light on genetic screen strategies. Nat Rev Genet. 2018 Jan;19(1):6-7. doi: 10.1038/nrg.2017.99. Epub 2017 Nov 13. PMID: 29129919.
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The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing.

Sociology of health & illness

Skinner D, Raspberry KA, King M.
PMID: 27538589
Sociol Health Illn. 2016 Nov;38(8):1303-1317. doi: 10.1111/1467-9566.12460. Epub 2016 Aug 19.

Genomic sequencing technology is moving rapidly from the research setting into clinical medicine but significant technological and interpretive challenges remain. Exome sequencing (ES) in its recent clinical application provides a genetic diagnosis in about 25 per cent of cases...

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Skinner D, Raspberry KA, King M. The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing. Sociol Health Illn. 2016;38(8):1303-1317doi: 10.1111/1467-9566.12460.
Skinner, D., Raspberry, K. A., & King, M. (2016). The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing. Sociology of health & illness, 38(8), 1303-1317. https://doi.org/10.1111/1467-9566.12460
Skinner, Debra, et al. "The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing." Sociology of health & illness vol. 38,8 (2016): 1303-1317. doi: https://doi.org/10.1111/1467-9566.12460
Skinner D, Raspberry KA, King M. The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing. Sociol Health Illn. 2016 Nov;38(8):1303-1317. doi: 10.1111/1467-9566.12460. Epub 2016 Aug 19. PMID: 27538589; PMCID: PMC5089912.
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Machine learning and data mining in complex genomic data--a review on the lessons learned in Genetic Analysis Workshop 19.

BMC genetics

König IR, Auerbach J, Gola D, Held E, Holzinger ER, Legault MA, Sun R, Tintle N, Yang HC.
PMID: 26866367
BMC Genet. 2016 Feb 03;17:1. doi: 10.1186/s12863-015-0315-8.

In the analysis of current genomic data, application of machine learning and data mining techniques has become more attractive given the rising complexity of the projects. As part of the Genetic Analysis Workshop 19, approaches from this domain were...

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König IR, Auerbach J, Gola D, et al. Machine learning and data mining in complex genomic data--a review on the lessons learned in Genetic Analysis Workshop 19. BMC Genet. 2016;17:1doi: 10.1186/s12863-015-0315-8.
König, I. R., Auerbach, J., Gola, D., Held, E., Holzinger, E. R., Legault, M. A., Sun, R., Tintle, N., & Yang, H. C. (2016). Machine learning and data mining in complex genomic data--a review on the lessons learned in Genetic Analysis Workshop 19. BMC genetics, 171. https://doi.org/10.1186/s12863-015-0315-8
König, Inke R, et al. "Machine learning and data mining in complex genomic data--a review on the lessons learned in Genetic Analysis Workshop 19." BMC genetics vol. 17 (2016): 1. doi: https://doi.org/10.1186/s12863-015-0315-8
König IR, Auerbach J, Gola D, Held E, Holzinger ER, Legault MA, Sun R, Tintle N, Yang HC. Machine learning and data mining in complex genomic data--a review on the lessons learned in Genetic Analysis Workshop 19. BMC Genet. 2016 Feb 03;17:1. doi: 10.1186/s12863-015-0315-8. PMID: 26866367; PMCID: PMC4895282.
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Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?.

Archives of disease in childhood

Forman EB, Gorman KM, Conroy J, Arthur N, Grant C, Ennis S, Allen NM, Lynch SA, King MD.
PMID: 28939639
Arch Dis Child. 2018 Mar;103(3):304. doi: 10.1136/archdischild-2017-313240. Epub 2017 Sep 22.

No abstract available.

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Forman EB, Gorman KM, Conroy J, et al. Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?. Arch Dis Child. 2017;103(3):304doi: 10.1136/archdischild-2017-313240.
Forman, E. B., Gorman, K. M., Conroy, J., Arthur, N., Grant, C., Ennis, S., Allen, N. M., Lynch, S. A., & King, M. D. (2018). Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?. Archives of disease in childhood, 103(3), 304. https://doi.org/10.1136/archdischild-2017-313240
Forman, Eva B, et al. "Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?." Archives of disease in childhood vol. 103,3 (2018): 304. doi: https://doi.org/10.1136/archdischild-2017-313240
Forman EB, Gorman KM, Conroy J, Arthur N, Grant C, Ennis S, Allen NM, Lynch SA, King MD. Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?. Arch Dis Child. 2018 Mar;103(3):304. doi: 10.1136/archdischild-2017-313240. Epub 2017 Sep 22. PMID: 28939639.
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Showing 25 to 36 of 225 entries