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ePhenotyping for Abdominal Aortic Aneurysm in the Electronic Medical Records and Genomics (eMERGE) Network: Algorithm Development and Konstanz Information Miner Workflow.

International journal of biomedical data mining

Borthwick KM, Smelser DT, Bock JA, Elmore JR, Ryer EJ, Ye Z, Pacheco JA, Carrell DS, Michalkiewicz M, Thompson WK, Pathak J, Bielinski SJ, Denny JC, Linneman JG, Peissig PL, Kho AN, Gottesman O, Parmar H, Kullo IJ, McCarty CA, Böttinger EP, Larson EB, Jarvik GP, Harley JB, Bajwa T, Franklin DP, Carey DJ, Kuivaniemi H, Tromp G.
PMID: 27054044
Int J Biomed Data Min. 2015 Dec;4(1). Epub 2015 Jul 30.

BACKGROUND AND OBJECTIVE: We designed an algorithm to identify abdominal aortic aneurysm cases and controls from electronic health records to be shared and executed within the "electronic Medical Records and Genomics" (eMERGE) Network.MATERIALS AND METHODS: Structured Query Language, was...

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Borthwick KM, Smelser DT, Bock JA, et al. ePhenotyping for Abdominal Aortic Aneurysm in the Electronic Medical Records and Genomics (eMERGE) Network: Algorithm Development and Konstanz Information Miner Workflow. Int J Biomed Data Min. 2015;4(1)
Borthwick, K. M., Smelser, D. T., Bock, J. A., Elmore, J. R., Ryer, E. J., Ye, Z., Pacheco, J. A., Carrell, D. S., Michalkiewicz, M., Thompson, W. K., Pathak, J., Bielinski, S. J., Denny, J. C., Linneman, J. G., Peissig, P. L., Kho, A. N., Gottesman, O., Parmar, H., Kullo, I. J., McCarty, C. A., Böttinger, E. P., Larson, E. B., Jarvik, G. P., Harley, J. B., Bajwa, T., Franklin, D. P., Carey, D. J., Kuivaniemi, H., & Tromp, G. (2015). ePhenotyping for Abdominal Aortic Aneurysm in the Electronic Medical Records and Genomics (eMERGE) Network: Algorithm Development and Konstanz Information Miner Workflow. International journal of biomedical data mining, 4(1), .
Borthwick, Kenneth M, et al. "ePhenotyping for Abdominal Aortic Aneurysm in the Electronic Medical Records and Genomics (eMERGE) Network: Algorithm Development and Konstanz Information Miner Workflow." International journal of biomedical data mining vol. 4,1 (2015).
Borthwick KM, Smelser DT, Bock JA, Elmore JR, Ryer EJ, Ye Z, Pacheco JA, Carrell DS, Michalkiewicz M, Thompson WK, Pathak J, Bielinski SJ, Denny JC, Linneman JG, Peissig PL, Kho AN, Gottesman O, Parmar H, Kullo IJ, McCarty CA, Böttinger EP, Larson EB, Jarvik GP, Harley JB, Bajwa T, Franklin DP, Carey DJ, Kuivaniemi H, Tromp G. ePhenotyping for Abdominal Aortic Aneurysm in the Electronic Medical Records and Genomics (eMERGE) Network: Algorithm Development and Konstanz Information Miner Workflow. Int J Biomed Data Min. 2015 Dec;4(1). Epub 2015 Jul 30. PMID: 27054044; PMCID: PMC4820287.
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Practical considerations in genomic decision support: The eMERGE experience.

Journal of pathology informatics

Herr TM, Bielinski SJ, Bottinger E, Brautbar A, Brilliant M, Chute CG, Cobb BL, Denny JC, Hakonarson H, Hartzler AL, Hripcsak G, Kannry J, Kohane IS, Kullo IJ, Lin S, Manzi S, Marsolo K, Overby CL, Pathak J, Peissig P, Pulley J, Ralston J, Rasmussen L, Roden DM, Tromp G, Uphoff T, Weng C, Wolf W, Williams MS, Starren J.
PMID: 26605115
J Pathol Inform. 2015 Sep 28;6:50. doi: 10.4103/2153-3539.165999. eCollection 2015.

BACKGROUND: Genomic medicine has the potential to improve care by tailoring treatments to the individual. There is consensus in the literature that pharmacogenomics (PGx) may be an ideal starting point for real-world implementation, due to the presence of well-characterized...

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Herr TM, Bielinski SJ, Bottinger E, et al. Practical considerations in genomic decision support: The eMERGE experience. J Pathol Inform. 2015;6:50doi: 10.4103/2153-3539.165999.
Herr, T. M., Bielinski, S. J., Bottinger, E., Brautbar, A., Brilliant, M., Chute, C. G., Cobb, B. L., Denny, J. C., Hakonarson, H., Hartzler, A. L., Hripcsak, G., Kannry, J., Kohane, I. S., Kullo, I. J., Lin, S., Manzi, S., Marsolo, K., Overby, C. L., Pathak, J., Peissig, P., Pulley, J., Ralston, J., Rasmussen, L., Roden, D. M., Tromp, G., Uphoff, T., Weng, C., Wolf, W., Williams, M. S., & Starren, J. (2015). Practical considerations in genomic decision support: The eMERGE experience. Journal of pathology informatics, 650. https://doi.org/10.4103/2153-3539.165999
Herr, Timothy M, et al. "Practical considerations in genomic decision support: The eMERGE experience." Journal of pathology informatics vol. 6 (2015): 50. doi: https://doi.org/10.4103/2153-3539.165999
Herr TM, Bielinski SJ, Bottinger E, Brautbar A, Brilliant M, Chute CG, Cobb BL, Denny JC, Hakonarson H, Hartzler AL, Hripcsak G, Kannry J, Kohane IS, Kullo IJ, Lin S, Manzi S, Marsolo K, Overby CL, Pathak J, Peissig P, Pulley J, Ralston J, Rasmussen L, Roden DM, Tromp G, Uphoff T, Weng C, Wolf W, Williams MS, Starren J. Practical considerations in genomic decision support: The eMERGE experience. J Pathol Inform. 2015 Sep 28;6:50. doi: 10.4103/2153-3539.165999. eCollection 2015. PMID: 26605115; PMCID: PMC4629307.
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Building a family network from genetic testing.

Molecular genetics & genomic medicine

Leppig KA, Thiese HA, Carrel D, Crosslin DR, Dorschner MO, Gordon AS, Hartzler A, Ralston J, Scrol A, Larson EB, Jarvik GP.
PMID: 28361098
Mol Genet Genomic Med. 2016 Dec 29;5(2):122-129. doi: 10.1002/mgg3.259. eCollection 2017 Mar.

BACKGROUND: Genetic testing has multigenerational and familial repercussions. However, the "trickle-down effect" of providing genetic counseling and testing to family members at risk after an initial identification of a pathogenic variant in a medically actionable gene has been poorly...

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Leppig KA, Thiese HA, Carrel D, et al. Building a family network from genetic testing. Mol Genet Genomic Med. 2016;5(2):122-129doi: 10.1002/mgg3.259.
Leppig, K. A., Thiese, H. A., Carrel, D., Crosslin, D. R., Dorschner, M. O., Gordon, A. S., Hartzler, A., Ralston, J., Scrol, A., Larson, E. B., & Jarvik, G. P. (2017). Building a family network from genetic testing. Molecular genetics & genomic medicine, 5(2), 122-129. https://doi.org/10.1002/mgg3.259
Leppig, Kathleen A, et al. "Building a family network from genetic testing." Molecular genetics & genomic medicine vol. 5,2 (2017): 122-129. doi: https://doi.org/10.1002/mgg3.259
Leppig KA, Thiese HA, Carrel D, Crosslin DR, Dorschner MO, Gordon AS, Hartzler A, Ralston J, Scrol A, Larson EB, Jarvik GP. Building a family network from genetic testing. Mol Genet Genomic Med. 2016 Dec 29;5(2):122-129. doi: 10.1002/mgg3.259. eCollection 2017 Mar. PMID: 28361098; PMCID: PMC5370219.
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Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals.

BioData mining

Holzinger ER, Verma SS, Moore CB, Hall M, De R, Gilbert-Diamond D, Lanktree MB, Pankratz N, Amuzu A, Burt A, Dale C, Dudek S, Furlong CE, Gaunt TR, Kim DS, Riess H, Sivapalaratnam S, Tragante V, van Iperen EPA, Brautbar A, Carrell DS, Crosslin DR, Jarvik GP, Kuivaniemi H, Kullo IJ, Larson EB, Rasmussen-Torvik LJ, Tromp G, Baumert J, Cruickshanks KJ, Farrall M, Hingorani AD, Hovingh GK, Kleber ME, Klein BE, Klein R, Koenig W, Lange LA, Mӓrz W, North KE, Charlotte Onland-Moret N, Reiner AP, Talmud PJ, van der Schouw YT, Wilson JG, Kivimaki M, Kumari M, Moore JH, Drenos F, Asselbergs FW, Keating BJ, Ritchie MD.
PMID: 28770004
BioData Min. 2017 Jul 24;10:25. doi: 10.1186/s13040-017-0145-5. eCollection 2017.

BACKGROUND: The genetic etiology of human lipid quantitative traits is not fully elucidated, and interactions between variants may play a role. We performed a gene-centric interaction study for four different lipid traits: low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol...

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Holzinger ER, Verma SS, Moore CB, et al. Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals. BioData Min. 2017;10:25doi: 10.1186/s13040-017-0145-5.
Holzinger, E. R., Verma, S. S., Moore, C. B., Hall, M., De, R., Gilbert-Diamond, D., Lanktree, M. B., Pankratz, N., Amuzu, A., Burt, A., Dale, C., Dudek, S., Furlong, C. E., Gaunt, T. R., Kim, D. S., Riess, H., Sivapalaratnam, S., Tragante, V., van Iperen, E. P. A., Brautbar, A., Carrell, D. S., Crosslin, D. R., Jarvik, G. P., Kuivaniemi, H., Kullo, I. J., Larson, E. B., Rasmussen-Torvik, L. J., Tromp, G., Baumert, J., Cruickshanks, K. J., Farrall, M., Hingorani, A. D., Hovingh, G. K., Kleber, M. E., Klein, B. E., Klein, R., Koenig, W., Lange, L. A., Mӓrz, W., North, K. E., Charlotte Onland-Moret, N., Reiner, A. P., Talmud, P. J., van der Schouw, Y. T., Wilson, J. G., Kivimaki, M., Kumari, M., Moore, J. H., Drenos, F., Asselbergs, F. W., Keating, B. J., & Ritchie, M. D. (2017). Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals. BioData mining, 1025. https://doi.org/10.1186/s13040-017-0145-5
Holzinger, Emily R, et al. "Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals." BioData mining vol. 10 (2017): 25. doi: https://doi.org/10.1186/s13040-017-0145-5
Holzinger ER, Verma SS, Moore CB, Hall M, De R, Gilbert-Diamond D, Lanktree MB, Pankratz N, Amuzu A, Burt A, Dale C, Dudek S, Furlong CE, Gaunt TR, Kim DS, Riess H, Sivapalaratnam S, Tragante V, van Iperen EPA, Brautbar A, Carrell DS, Crosslin DR, Jarvik GP, Kuivaniemi H, Kullo IJ, Larson EB, Rasmussen-Torvik LJ, Tromp G, Baumert J, Cruickshanks KJ, Farrall M, Hingorani AD, Hovingh GK, Kleber ME, Klein BE, Klein R, Koenig W, Lange LA, Mӓrz W, North KE, Charlotte Onland-Moret N, Reiner AP, Talmud PJ, van der Schouw YT, Wilson JG, Kivimaki M, Kumari M, Moore JH, Drenos F, Asselbergs FW, Keating BJ, Ritchie MD. Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals. BioData Min. 2017 Jul 24;10:25. doi: 10.1186/s13040-017-0145-5. eCollection 2017. PMID: 28770004; PMCID: PMC5525436.
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Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs.

Healthcare (Basel, Switzerland)

Williams JL, Chung WK, Fedotov A, Kiryluk K, Weng C, Connolly JJ, Harr M, Hakonarson H, Leppig KA, Larson EB, Jarvik GP, Veenstra DL, Hoell C, Smith ME, Holm IA, Peterson JF, Williams MS.
PMID: 30011878
Healthcare (Basel). 2018 Jul 13;6(3). doi: 10.3390/healthcare6030083.

Genomic medicine is moving from research to the clinic. There is a lack of evidence about the impact of genomic medicine interventions on health outcomes. This is due in part to a lack of standardized outcome measures that can...

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Williams JL, Chung WK, Fedotov A, et al. Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. Healthcare (Basel). 2018;6(3)doi: 10.3390/healthcare6030083.
Williams, J. L., Chung, W. K., Fedotov, A., Kiryluk, K., Weng, C., Connolly, J. J., Harr, M., Hakonarson, H., Leppig, K. A., Larson, E. B., Jarvik, G. P., Veenstra, D. L., Hoell, C., Smith, M. E., Holm, I. A., Peterson, J. F., & Williams, M. S. (2018). Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. Healthcare (Basel, Switzerland), 6(3), . https://doi.org/10.3390/healthcare6030083
Williams, Janet L, et al. "Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs." Healthcare (Basel, Switzerland) vol. 6,3 (2018). doi: https://doi.org/10.3390/healthcare6030083
Williams JL, Chung WK, Fedotov A, Kiryluk K, Weng C, Connolly JJ, Harr M, Hakonarson H, Leppig KA, Larson EB, Jarvik GP, Veenstra DL, Hoell C, Smith ME, Holm IA, Peterson JF, Williams MS. Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. Healthcare (Basel). 2018 Jul 13;6(3). doi: 10.3390/healthcare6030083. PMID: 30011878; PMCID: PMC6164315.
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Usefulness of mobile apps for communication of genetic test results to at-risk family members in a U.S. integrated health system: a qualitative approach from user-testing.

Health policy and technology

Haas CB, Scrol A, Jujjavarapu C, Jarvik GP, Henrikson NB.
PMID: 34040952
Health Policy Technol. 2021 Jun;10(2). doi: 10.1016/j.hlpt.2021.100511. Epub 2021 Apr 22.

OBJECTIVE: To assess the usefulness a mobile based application to send genetic test results to at-risk family members in a U.S. integrated health system.METHODS: We conducted semi-structured in-person interviews with members of Kaiser Permanente Washington who had enrolled in...

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Haas CB, Scrol A, Jujjavarapu C, et al. Usefulness of mobile apps for communication of genetic test results to at-risk family members in a U.S. integrated health system: a qualitative approach from user-testing. Health Policy Technol. 2021;10(2)doi: 10.1016/j.hlpt.2021.100511.
Haas, C. B., Scrol, A., Jujjavarapu, C., Jarvik, G. P., & Henrikson, N. B. (2021). Usefulness of mobile apps for communication of genetic test results to at-risk family members in a U.S. integrated health system: a qualitative approach from user-testing. Health policy and technology, 10(2), . https://doi.org/10.1016/j.hlpt.2021.100511
Haas, Cameron B, et al. "Usefulness of mobile apps for communication of genetic test results to at-risk family members in a U.S. integrated health system: a qualitative approach from user-testing." Health policy and technology vol. 10,2 (2021). doi: https://doi.org/10.1016/j.hlpt.2021.100511
Haas CB, Scrol A, Jujjavarapu C, Jarvik GP, Henrikson NB. Usefulness of mobile apps for communication of genetic test results to at-risk family members in a U.S. integrated health system: a qualitative approach from user-testing. Health Policy Technol. 2021 Jun;10(2). doi: 10.1016/j.hlpt.2021.100511. Epub 2021 Apr 22. PMID: 34040952; PMCID: PMC8143032.
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Do research participants share genomic screening results with family members?.

Journal of genetic counseling

Wynn J, Milo Rasouly H, Vasquez-Loarte T, Saami AM, Weiss R, Ziniel SI, Appelbaum PS, Wright Clayton E, Christensen KD, Fasel D, Green RC, Hain HS, Harr M, Hoell C, Kullo IJ, Leppig KA, Myers MF, Pacyna JE, Perez EF, Prows CA, Kulchak Rahm A, Campbell-Salome G, Sharp RR, Smith ME, Wiesner GL, Williams JL, Blout Zawatsky CL, Gharavi AG, Chung WK, Holm IA.
PMID: 34665896
J Genet Couns. 2021 Oct 19; doi: 10.1002/jgc4.1511. Epub 2021 Oct 19.

The public health impact of genomic screening can be enhanced by cascade testing. However, cascade testing depends on communication of results to family members. While the barriers and facilitators of family communication have been researched following clinical genetic testing,...

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Wynn J, Milo Rasouly H, Vasquez-Loarte T, et al. Do research participants share genomic screening results with family members?. J Genet Couns. 2021;doi: 10.1002/jgc4.1511.
Wynn, J., Milo Rasouly, H., Vasquez-Loarte, T., Saami, A. M., Weiss, R., Ziniel, S. I., Appelbaum, P. S., Wright Clayton, E., Christensen, K. D., Fasel, D., Green, R. C., Hain, H. S., Harr, M., Hoell, C., Kullo, I. J., Leppig, K. A., Myers, M. F., Pacyna, J. E., Perez, E. F., Prows, C. A., Kulchak Rahm, A., Campbell-Salome, G., Sharp, R. R., Smith, M. E., Wiesner, G. L., Williams, J. L., Blout Zawatsky, C. L., Gharavi, A. G., Chung, W. K., & Holm, I. A. (2021). Do research participants share genomic screening results with family members?. Journal of genetic counseling, . https://doi.org/10.1002/jgc4.1511
Wynn, Julia, et al. "Do research participants share genomic screening results with family members?." Journal of genetic counseling vol. (2021). doi: https://doi.org/10.1002/jgc4.1511
Wynn J, Milo Rasouly H, Vasquez-Loarte T, Saami AM, Weiss R, Ziniel SI, Appelbaum PS, Wright Clayton E, Christensen KD, Fasel D, Green RC, Hain HS, Harr M, Hoell C, Kullo IJ, Leppig KA, Myers MF, Pacyna JE, Perez EF, Prows CA, Kulchak Rahm A, Campbell-Salome G, Sharp RR, Smith ME, Wiesner GL, Williams JL, Blout Zawatsky CL, Gharavi AG, Chung WK, Holm IA. Do research participants share genomic screening results with family members?. J Genet Couns. 2021 Oct 19; doi: 10.1002/jgc4.1511. Epub 2021 Oct 19. PMID: 34665896.
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Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals.

BioData mining

Holzinger ER, Verma SS, Moore CB, Hall M, De R, Gilbert-Diamond D, Lanktree MB, Pankratz N, Amuzu A, Burt A, Dale C, Dudek S, Furlong CE, Gaunt TR, Kim DS, Riess H, Sivapalaratnam S, Tragante V, van Iperen EPA, Brautbar A, Carrell DS, Crosslin DR, Jarvik GP, Kuivaniemi H, Kullo IJ, Larson EB, Rasmussen-Torvik LJ, Tromp G, Baumert J, Cruickshanks KJ, Farrall M, Hingorani AD, Hovingh GK, Kleber ME, Klein BE, Klein R, Koenig W, Lange LA, Mӓrz W, North KE, Charlotte Onland-Moret N, Reiner AP, Talmud PJ, van der Schouw YT, Wilson JG, Kivimaki M, Kumari M, Moore JH, Drenos F, Asselbergs FW, Keating BJ, Ritchie MD.
PMID: 28770004
BioData Min. 2017 Jul 24;10:25. doi: 10.1186/s13040-017-0145-5. eCollection 2017.

BACKGROUND: The genetic etiology of human lipid quantitative traits is not fully elucidated, and interactions between variants may play a role. We performed a gene-centric interaction study for four different lipid traits: low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol...

Cite
Holzinger ER, Verma SS, Moore CB, et al. Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals. BioData Min. 2017;10:25doi: 10.1186/s13040-017-0145-5.
Holzinger, E. R., Verma, S. S., Moore, C. B., Hall, M., De, R., Gilbert-Diamond, D., Lanktree, M. B., Pankratz, N., Amuzu, A., Burt, A., Dale, C., Dudek, S., Furlong, C. E., Gaunt, T. R., Kim, D. S., Riess, H., Sivapalaratnam, S., Tragante, V., van Iperen, E. P. A., Brautbar, A., Carrell, D. S., Crosslin, D. R., Jarvik, G. P., Kuivaniemi, H., Kullo, I. J., Larson, E. B., Rasmussen-Torvik, L. J., Tromp, G., Baumert, J., Cruickshanks, K. J., Farrall, M., Hingorani, A. D., Hovingh, G. K., Kleber, M. E., Klein, B. E., Klein, R., Koenig, W., Lange, L. A., Mӓrz, W., North, K. E., Charlotte Onland-Moret, N., Reiner, A. P., Talmud, P. J., van der Schouw, Y. T., Wilson, J. G., Kivimaki, M., Kumari, M., Moore, J. H., Drenos, F., Asselbergs, F. W., Keating, B. J., & Ritchie, M. D. (2017). Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals. BioData mining, 1025. https://doi.org/10.1186/s13040-017-0145-5
Holzinger, Emily R, et al. "Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals." BioData mining vol. 10 (2017): 25. doi: https://doi.org/10.1186/s13040-017-0145-5
Holzinger ER, Verma SS, Moore CB, Hall M, De R, Gilbert-Diamond D, Lanktree MB, Pankratz N, Amuzu A, Burt A, Dale C, Dudek S, Furlong CE, Gaunt TR, Kim DS, Riess H, Sivapalaratnam S, Tragante V, van Iperen EPA, Brautbar A, Carrell DS, Crosslin DR, Jarvik GP, Kuivaniemi H, Kullo IJ, Larson EB, Rasmussen-Torvik LJ, Tromp G, Baumert J, Cruickshanks KJ, Farrall M, Hingorani AD, Hovingh GK, Kleber ME, Klein BE, Klein R, Koenig W, Lange LA, Mӓrz W, North KE, Charlotte Onland-Moret N, Reiner AP, Talmud PJ, van der Schouw YT, Wilson JG, Kivimaki M, Kumari M, Moore JH, Drenos F, Asselbergs FW, Keating BJ, Ritchie MD. Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals. BioData Min. 2017 Jul 24;10:25. doi: 10.1186/s13040-017-0145-5. eCollection 2017. PMID: 28770004; PMCID: PMC5525436.
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Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals.

BioData mining

Holzinger ER, Verma SS, Moore CB, Hall M, De R, Gilbert-Diamond D, Lanktree MB, Pankratz N, Amuzu A, Burt A, Dale C, Dudek S, Furlong CE, Gaunt TR, Kim DS, Riess H, Sivapalaratnam S, Tragante V, van Iperen EPA, Brautbar A, Carrell DS, Crosslin DR, Jarvik GP, Kuivaniemi H, Kullo IJ, Larson EB, Rasmussen-Torvik LJ, Tromp G, Baumert J, Cruickshanks KJ, Farrall M, Hingorani AD, Hovingh GK, Kleber ME, Klein BE, Klein R, Koenig W, Lange LA, Mӓrz W, North KE, Charlotte Onland-Moret N, Reiner AP, Talmud PJ, van der Schouw YT, Wilson JG, Kivimaki M, Kumari M, Moore JH, Drenos F, Asselbergs FW, Keating BJ, Ritchie MD.
PMID: 28770004
BioData Min. 2017 Jul 24;10:25. doi: 10.1186/s13040-017-0145-5. eCollection 2017.

BACKGROUND: The genetic etiology of human lipid quantitative traits is not fully elucidated, and interactions between variants may play a role. We performed a gene-centric interaction study for four different lipid traits: low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol...

Cite
Holzinger ER, Verma SS, Moore CB, et al. Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals. BioData Min. 2017;10:25doi: 10.1186/s13040-017-0145-5.
Holzinger, E. R., Verma, S. S., Moore, C. B., Hall, M., De, R., Gilbert-Diamond, D., Lanktree, M. B., Pankratz, N., Amuzu, A., Burt, A., Dale, C., Dudek, S., Furlong, C. E., Gaunt, T. R., Kim, D. S., Riess, H., Sivapalaratnam, S., Tragante, V., van Iperen, E. P. A., Brautbar, A., Carrell, D. S., Crosslin, D. R., Jarvik, G. P., Kuivaniemi, H., Kullo, I. J., Larson, E. B., Rasmussen-Torvik, L. J., Tromp, G., Baumert, J., Cruickshanks, K. J., Farrall, M., Hingorani, A. D., Hovingh, G. K., Kleber, M. E., Klein, B. E., Klein, R., Koenig, W., Lange, L. A., Mӓrz, W., North, K. E., Charlotte Onland-Moret, N., Reiner, A. P., Talmud, P. J., van der Schouw, Y. T., Wilson, J. G., Kivimaki, M., Kumari, M., Moore, J. H., Drenos, F., Asselbergs, F. W., Keating, B. J., & Ritchie, M. D. (2017). Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals. BioData mining, 1025. https://doi.org/10.1186/s13040-017-0145-5
Holzinger, Emily R, et al. "Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals." BioData mining vol. 10 (2017): 25. doi: https://doi.org/10.1186/s13040-017-0145-5
Holzinger ER, Verma SS, Moore CB, Hall M, De R, Gilbert-Diamond D, Lanktree MB, Pankratz N, Amuzu A, Burt A, Dale C, Dudek S, Furlong CE, Gaunt TR, Kim DS, Riess H, Sivapalaratnam S, Tragante V, van Iperen EPA, Brautbar A, Carrell DS, Crosslin DR, Jarvik GP, Kuivaniemi H, Kullo IJ, Larson EB, Rasmussen-Torvik LJ, Tromp G, Baumert J, Cruickshanks KJ, Farrall M, Hingorani AD, Hovingh GK, Kleber ME, Klein BE, Klein R, Koenig W, Lange LA, Mӓrz W, North KE, Charlotte Onland-Moret N, Reiner AP, Talmud PJ, van der Schouw YT, Wilson JG, Kivimaki M, Kumari M, Moore JH, Drenos F, Asselbergs FW, Keating BJ, Ritchie MD. Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals. BioData Min. 2017 Jul 24;10:25. doi: 10.1186/s13040-017-0145-5. eCollection 2017. PMID: 28770004; PMCID: PMC5525436.
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Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience.

Journal of personalized medicine

Fossey R, Kochan D, Winkler E, Pacyna JE, Olson J, Thibodeau S, Connolly JJ, Harr M, Behr MA, Prows CA, Cobb B, Myers MF, Leslie ND, Namjou-Khales B, Milo Rasouly H, Wynn J, Fedotov A, Chung WK, Gharavi A, Williams JL, Pais L, Holm I, Aufox S, Smith ME, Scrol A, Leppig K, Jarvik GP, Wiesner GL, Li R, Stroud M, Smoller JW, Sharp RR, Kullo IJ.
PMID: 29301385
J Pers Med. 2018 Jan 03;8(1). doi: 10.3390/jpm8010002.

We examined the Institutional Review Board (IRB) process at 9 academic institutions in the electronic Medical Records and Genomics (eMERGE) Network, for proposed electronic health record-based genomic medicine studies, to identify common questions and concerns. Sequencing of 109 disease...

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Fossey R, Kochan D, Winkler E, et al. Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience. J Pers Med. 2018;8(1)doi: 10.3390/jpm8010002.
Fossey, R., Kochan, D., Winkler, E., Pacyna, J. E., Olson, J., Thibodeau, S., Connolly, J. J., Harr, M., Behr, M. A., Prows, C. A., Cobb, B., Myers, M. F., Leslie, N. D., Namjou-Khales, B., Milo Rasouly, H., Wynn, J., Fedotov, A., Chung, W. K., Gharavi, A., Williams, J. L., Pais, L., Holm, I., Aufox, S., Smith, M. E., Scrol, A., Leppig, K., Jarvik, G. P., Wiesner, G. L., Li, R., Stroud, M., Smoller, J. W., Sharp, R. R., & Kullo, I. J. (2018). Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience. Journal of personalized medicine, 8(1), . https://doi.org/10.3390/jpm8010002
Fossey, Robyn, et al. "Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience." Journal of personalized medicine vol. 8,1 (2018). doi: https://doi.org/10.3390/jpm8010002
Fossey R, Kochan D, Winkler E, Pacyna JE, Olson J, Thibodeau S, Connolly JJ, Harr M, Behr MA, Prows CA, Cobb B, Myers MF, Leslie ND, Namjou-Khales B, Milo Rasouly H, Wynn J, Fedotov A, Chung WK, Gharavi A, Williams JL, Pais L, Holm I, Aufox S, Smith ME, Scrol A, Leppig K, Jarvik GP, Wiesner GL, Li R, Stroud M, Smoller JW, Sharp RR, Kullo IJ. Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience. J Pers Med. 2018 Jan 03;8(1). doi: 10.3390/jpm8010002. PMID: 29301385; PMCID: PMC5872076.
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Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR).

BioData mining

De R, Verma SS, Drenos F, Holzinger ER, Holmes MV, Hall MA, Crosslin DR, Carrell DS, Hakonarson H, Jarvik G, Larson E, Pacheco JA, Rasmussen-Torvik LJ, Moore CB, Asselbergs FW, Moore JH, Ritchie MD, Keating BJ, Gilbert-Diamond D.
PMID: 26674805
BioData Min. 2015 Dec 14;8:41. doi: 10.1186/s13040-015-0074-0. eCollection 2015.

BACKGROUND: Despite heritability estimates of 40-70 % for obesity, less than 2 % of its variation is explained by Body Mass Index (BMI) associated loci that have been identified so far. Epistasis, or gene-gene interactions are a plausible source...

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De R, Verma SS, Drenos F, et al. Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR). BioData Min. 2015;8:41doi: 10.1186/s13040-015-0074-0.
De, R., Verma, S. S., Drenos, F., Holzinger, E. R., Holmes, M. V., Hall, M. A., Crosslin, D. R., Carrell, D. S., Hakonarson, H., Jarvik, G., Larson, E., Pacheco, J. A., Rasmussen-Torvik, L. J., Moore, C. B., Asselbergs, F. W., Moore, J. H., Ritchie, M. D., Keating, B. J., & Gilbert-Diamond, D. (2015). Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR). BioData mining, 841. https://doi.org/10.1186/s13040-015-0074-0
De, Rishika, et al. "Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR)." BioData mining vol. 8 (2015): 41. doi: https://doi.org/10.1186/s13040-015-0074-0
De R, Verma SS, Drenos F, Holzinger ER, Holmes MV, Hall MA, Crosslin DR, Carrell DS, Hakonarson H, Jarvik G, Larson E, Pacheco JA, Rasmussen-Torvik LJ, Moore CB, Asselbergs FW, Moore JH, Ritchie MD, Keating BJ, Gilbert-Diamond D. Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR). BioData Min. 2015 Dec 14;8:41. doi: 10.1186/s13040-015-0074-0. eCollection 2015. PMID: 26674805; PMCID: PMC4678717.
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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

American journal of human genetics

Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH.
PMID: 27392080
Am J Hum Genet. 2016 Jul 07;99(1):246. doi: 10.1016/j.ajhg.2016.06.002.

No abstract available.

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Green RC, Goddard KA, Jarvik GP, et al. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016;99(1):246doi: 10.1016/j.ajhg.2016.06.002.
Green, R. C., Goddard, K. A., Jarvik, G. P., Amendola, L. M., Appelbaum, P. S., Berg, J. S., Bernhardt, B. A., Biesecker, L. G., Biswas, S., Blout, C. L., Bowling, K. M., Brothers, K. B., Burke, W., Caga-Anan, C. F., Chinnaiyan, A. M., Chung, W. K., Clayton, E. W., Cooper, G. M., East, K., Evans, J. P., Fullerton, S. M., Garraway, L. A., Garrett, J. R., Gray, S. W., Henderson, G. E., Hindorff, L. A., Holm, I. A., Lewis, M. H., Hutter, C. M., Janne, P. A., Joffe, S., Kaufman, D., Knoppers, B. M., Koenig, B. A., Krantz, I. D., Manolio, T. A., McCullough, L., McEwen, J., McGuire, A., Muzny, D., Myers, R. M., Nickerson, D. A., Ou, J., Parsons, D. W., Petersen, G. M., Plon, S. E., Rehm, H. L., Roberts, J. S., Robinson, D., Salama, J. S., Scollon, S., Sharp, R. R., Shirts, B., Spinner, N. B., Tabor, H. K., Tarczy-Hornoch, P., Veenstra, D. L., Wagle, N., Weck, K., Wilfond, B. S., Wilhelmsen, K., Wolf, S. M., Wynn, J., Yu, J. H. (2016). Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. American journal of human genetics, 99(1), 246. https://doi.org/10.1016/j.ajhg.2016.06.002
Green, Robert C, et al. "Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine." American journal of human genetics vol. 99,1 (2016): 246. doi: https://doi.org/10.1016/j.ajhg.2016.06.002
Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 Jul 07;99(1):246. doi: 10.1016/j.ajhg.2016.06.002. PMID: 27392080; PMCID: PMC5005464.
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