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Establishing the International Genetic Discrimination Observatory.

Nature genetics

Joly Y, Dalpé G, Dupras C, Bévière-Boyer B, de Paor A, Dove ES, Granados Moreno P, Ho CWL, Ho CH, Ó Cathaoir K, Kato K, Kim H, Song L, Minssen T, Nicolás P, Otlowski M, Prince AER, P S Nair A, Van Hoyweghen I, Voigt TH, Yamasaki C, Bombard Y.
PMID: 32203466
Nat Genet. 2020 May;52(5):466-468. doi: 10.1038/s41588-020-0606-5.

No abstract available.

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Joly Y, Dalpé G, Dupras C, et al. Establishing the International Genetic Discrimination Observatory. Nat Genet. 2020;52(5):466-468doi: 10.1038/s41588-020-0606-5.
Joly, Y., Dalpé, G., Dupras, C., Bévière-Boyer, B., de Paor, A., Dove, E. S., Granados Moreno, P., Ho, C. W. L., Ho, C. H., Ó Cathaoir, K., Kato, K., Kim, H., Song, L., Minssen, T., Nicolás, P., Otlowski, M., Prince, A. E. R., P S Nair, A., Van Hoyweghen, I., Voigt, T. H., Yamasaki, C., & Bombard, Y. (2020). Establishing the International Genetic Discrimination Observatory. Nature genetics, 52(5), 466-468. https://doi.org/10.1038/s41588-020-0606-5
Joly, Yann, et al. "Establishing the International Genetic Discrimination Observatory." Nature genetics vol. 52,5 (2020): 466-468. doi: https://doi.org/10.1038/s41588-020-0606-5
Joly Y, Dalpé G, Dupras C, Bévière-Boyer B, de Paor A, Dove ES, Granados Moreno P, Ho CWL, Ho CH, Ó Cathaoir K, Kato K, Kim H, Song L, Minssen T, Nicolás P, Otlowski M, Prince AER, P S Nair A, Van Hoyweghen I, Voigt TH, Yamasaki C, Bombard Y. Establishing the International Genetic Discrimination Observatory. Nat Genet. 2020 May;52(5):466-468. doi: 10.1038/s41588-020-0606-5. PMID: 32203466.
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A primer on deep learning in genomics.

Nature genetics

Zou J, Huss M, Abid A, Mohammadi P, Torkamani A, Telenti A.
PMID: 30478442
Nat Genet. 2019 Jan;51(1):12-18. doi: 10.1038/s41588-018-0295-5. Epub 2018 Nov 26.

Deep learning methods are a class of machine learning techniques capable of identifying highly complex patterns in large datasets. Here, we provide a perspective and primer on deep learning applications for genome analysis. We discuss successful applications in the...

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Zou J, Huss M, Abid A, et al. A primer on deep learning in genomics. Nat Genet. 2018;51(1):12-18doi: 10.1038/s41588-018-0295-5.
Zou, J., Huss, M., Abid, A., Mohammadi, P., Torkamani, A., & Telenti, A. (2019). A primer on deep learning in genomics. Nature genetics, 51(1), 12-18. https://doi.org/10.1038/s41588-018-0295-5
Zou, James, et al. "A primer on deep learning in genomics." Nature genetics vol. 51,1 (2019): 12-18. doi: https://doi.org/10.1038/s41588-018-0295-5
Zou J, Huss M, Abid A, Mohammadi P, Torkamani A, Telenti A. A primer on deep learning in genomics. Nat Genet. 2019 Jan;51(1):12-18. doi: 10.1038/s41588-018-0295-5. Epub 2018 Nov 26. PMID: 30478442.
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Reclassification of the .

Cold Spring Harbor molecular case studies

Grant AR, Hemphill SE, Vincent LM, Rehm HL.
PMID: 29945942
Cold Spring Harb Mol Case Stud. 2018 Oct 01;4(5). doi: 10.1101/mcs.a002675. Print 2018 Oct.

The ClinVar database is a useful tool for patients and physicians to view variant interpretations submitted by clinical and nonclinical labs. However, variants of uncertain significance (VUS) in ClinVar can pose a significant burden on patients. If possible, it...

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Grant AR, Hemphill SE, Vincent LM, et al. Reclassification of the . Cold Spring Harb Mol Case Stud. 2018;4(5)doi: 10.1101/mcs.a002675.
Grant, A. R., Hemphill, S. E., Vincent, L. M., & Rehm, H. L. (2018). Reclassification of the . Cold Spring Harbor molecular case studies, 4(5), . https://doi.org/10.1101/mcs.a002675
Grant, Andrew R, et al. "Reclassification of the ." Cold Spring Harbor molecular case studies vol. 4,5 (2018). doi: https://doi.org/10.1101/mcs.a002675
Grant AR, Hemphill SE, Vincent LM, Rehm HL. Reclassification of the . Cold Spring Harb Mol Case Stud. 2018 Oct 01;4(5). doi: 10.1101/mcs.a002675. Print 2018 Oct. PMID: 29945942; PMCID: PMC6169827.
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Statement on bioinformatics and capturing the benefits of genome sequencing for society.

Human genomics

Capps B, Chadwick R, Joly Y, Lysaght T, Mills C, Mulvihill JJ, Zwart H.
PMID: 31142362
Hum Genomics. 2019 May 29;13(1):24. doi: 10.1186/s40246-019-0208-4.

The HUGO Committee on Ethics, Law and Society (CELS) undertook a Working Group exploration of the key ethical issues arising from genome sequencing in 2013. The Imagined Futures paper the group subsequently published proposed points to consider when applying...

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Capps B, Chadwick R, Joly Y, et al. Statement on bioinformatics and capturing the benefits of genome sequencing for society. Hum Genomics. 2019;13(1):24doi: 10.1186/s40246-019-0208-4.
Capps, B., Chadwick, R., Joly, Y., Lysaght, T., Mills, C., Mulvihill, J. J., & Zwart, H. (2019). Statement on bioinformatics and capturing the benefits of genome sequencing for society. Human genomics, 13(1), 24. https://doi.org/10.1186/s40246-019-0208-4
Capps, Benjamin, et al. "Statement on bioinformatics and capturing the benefits of genome sequencing for society." Human genomics vol. 13,1 (2019): 24. doi: https://doi.org/10.1186/s40246-019-0208-4
Capps B, Chadwick R, Joly Y, Lysaght T, Mills C, Mulvihill JJ, Zwart H. Statement on bioinformatics and capturing the benefits of genome sequencing for society. Hum Genomics. 2019 May 29;13(1):24. doi: 10.1186/s40246-019-0208-4. PMID: 31142362; PMCID: PMC6542037.
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National Efforts with Global Implications.

Cell

[No authors listed]
PMID: 30901537
Cell. 2019 Mar 21;177(1):16-19. doi: 10.1016/j.cell.2019.02.047.

As genome sequencing at a large scale becomes more and more accessible, national genomics programs are taking off around the world and providing critical insights into our understanding of the human genome. Cell's April Pawluk caught up with Fowzan...

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National Efforts with Global Implications. Cell. 2019;177(1):16-19doi: 10.1016/j.cell.2019.02.047.
(2019). National Efforts with Global Implications. Cell, 177(1), 16-19. https://doi.org/10.1016/j.cell.2019.02.047
"National Efforts with Global Implications." Cell vol. 177,1 (2019): 16-19. doi: https://doi.org/10.1016/j.cell.2019.02.047
National Efforts with Global Implications. Cell. 2019 Mar 21;177(1):16-19. doi: 10.1016/j.cell.2019.02.047. PMID: 30901537.
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Personalized Medicine and the Power of Electronic Health Records.

Cell

Abul-Husn NS, Kenny EE.
PMID: 30901549
Cell. 2019 Mar 21;177(1):58-69. doi: 10.1016/j.cell.2019.02.039.

Personalized medicine has largely been enabled by the integration of genomic and other data with electronic health records (EHRs) in the United States and elsewhere. Increased EHR adoption across various clinical settings and the establishment of EHR-linked population-based biobanks...

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Abul-Husn NS, Kenny EE. Personalized Medicine and the Power of Electronic Health Records. Cell. 2019;177(1):58-69doi: 10.1016/j.cell.2019.02.039.
Abul-Husn, N. S., & Kenny, E. E. (2019). Personalized Medicine and the Power of Electronic Health Records. Cell, 177(1), 58-69. https://doi.org/10.1016/j.cell.2019.02.039
Abul-Husn, Noura S, and Kenny, Eimear E. "Personalized Medicine and the Power of Electronic Health Records." Cell vol. 177,1 (2019): 58-69. doi: https://doi.org/10.1016/j.cell.2019.02.039
Abul-Husn NS, Kenny EE. Personalized Medicine and the Power of Electronic Health Records. Cell. 2019 Mar 21;177(1):58-69. doi: 10.1016/j.cell.2019.02.039. PMID: 30901549; PMCID: PMC6921466.
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Precision medicine.

Nature

Bahcall O.
PMID: 26469043
Nature. 2015 Oct 15;526(7573):335. doi: 10.1038/526335a.

No abstract available.

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Bahcall O. Precision medicine. Nature. 2015;526(7573):335doi: 10.1038/526335a.
Bahcall, O. (2015). Precision medicine. Nature, 526(7573), 335. https://doi.org/10.1038/526335a
Bahcall, Orli. "Precision medicine." Nature vol. 526,7573 (2015): 335. doi: https://doi.org/10.1038/526335a
Bahcall O. Precision medicine. Nature. 2015 Oct 15;526(7573):335. doi: 10.1038/526335a. PMID: 26469043.
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Detecting inherited and novel structural variants in low-coverage parent-child sequencing data.

Methods (San Diego, Calif.)

Spence M, Banuelos M, Marcia RF, Sindi S.
PMID: 31271880
Methods. 2020 Feb 15;173:61-68. doi: 10.1016/j.ymeth.2019.06.025. Epub 2019 Jul 02.

Structural variants (SVs) are a class of genomic variation shared by members of the same species. Though relatively rare, they represent an increasingly important class of variation, as SVs have been associated with diseases and susceptibility to some types...

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Spence M, Banuelos M, Marcia RF, et al. Detecting inherited and novel structural variants in low-coverage parent-child sequencing data. Methods. 2019;173:61-68doi: 10.1016/j.ymeth.2019.06.025.
Spence, M., Banuelos, M., Marcia, R. F., & Sindi, S. (2020). Detecting inherited and novel structural variants in low-coverage parent-child sequencing data. Methods (San Diego, Calif.), 17361-68. https://doi.org/10.1016/j.ymeth.2019.06.025
Spence, Melissa, et al. "Detecting inherited and novel structural variants in low-coverage parent-child sequencing data." Methods (San Diego, Calif.) vol. 173 (2020): 61-68. doi: https://doi.org/10.1016/j.ymeth.2019.06.025
Spence M, Banuelos M, Marcia RF, Sindi S. Detecting inherited and novel structural variants in low-coverage parent-child sequencing data. Methods. 2020 Feb 15;173:61-68. doi: 10.1016/j.ymeth.2019.06.025. Epub 2019 Jul 02. PMID: 31271880.
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Editorial overview: Diving into the Genome.

Current opinion in genetics & development

Bystricky K, Merkenschlager M.
PMID: 32950132
Curr Opin Genet Dev. 2020 Apr;61:iii-vi. doi: 10.1016/j.gde.2020.06.001.

No abstract available.

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Bystricky K, Merkenschlager M. Editorial overview: Diving into the Genome. Curr Opin Genet Dev. 2020;61:iii-vidoi: 10.1016/j.gde.2020.06.001.
Bystricky, K., & Merkenschlager, M. (2020). Editorial overview: Diving into the Genome. Current opinion in genetics & development, 61iii-vi. https://doi.org/10.1016/j.gde.2020.06.001
Bystricky, Kerstin, and Merkenschlager, Matthias. "Editorial overview: Diving into the Genome." Current opinion in genetics & development vol. 61 (2020): iii-vi. doi: https://doi.org/10.1016/j.gde.2020.06.001
Bystricky K, Merkenschlager M. Editorial overview: Diving into the Genome. Curr Opin Genet Dev. 2020 Apr;61:iii-vi. doi: 10.1016/j.gde.2020.06.001. PMID: 32950132.
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What Is Prudent Governance of Human Genome Editing?.

AMA journal of ethics

Schweikart SJ.
PMID: 31876467
AMA J Ethics. 2019 Dec 01;21(12):E1042-1048. doi: 10.1001/amajethics.2019.1042.

CRISPR technology has made questions about how best to regulate human genome editing immediately relevant. A sound and ethical governance structure for human genome editing is necessary, as the consequences of this new technology are far-reaching and profound. Because...

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Schweikart SJ. What Is Prudent Governance of Human Genome Editing?. AMA J Ethics. 2019;21(12):E1042-1048doi: 10.1001/amajethics.2019.1042.
Schweikart, S. J. (2019). What Is Prudent Governance of Human Genome Editing?. AMA journal of ethics, 21(12), E1042-1048. https://doi.org/10.1001/amajethics.2019.1042
Schweikart, Scott J. "What Is Prudent Governance of Human Genome Editing?." AMA journal of ethics vol. 21,12 (2019): E1042-1048. doi: https://doi.org/10.1001/amajethics.2019.1042
Schweikart SJ. What Is Prudent Governance of Human Genome Editing?. AMA J Ethics. 2019 Dec 01;21(12):E1042-1048. doi: 10.1001/amajethics.2019.1042. PMID: 31876467.
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Systematically Prioritizing Candidates in Genome-Based Drug Repurposing.

Assay and drug development technologies

Challa AP, Lavieri RR, Lewis JT, Zaleski NM, Shirey-Rice JK, Harris PA, Aronoff DM, Pulley JM.
PMID: 31769998
Assay Drug Dev Technol. 2019 Nov/Dec;17(8):352-363. doi: 10.1089/adt.2019.950. Epub 2019 Nov 26.

Drug repurposing is the application of approved drugs to treat diseases separate and distinct from their original indications. Herein, we define the scope of all practical precision drug repurposing using DrugBank, a publicly available database of pharmacological agents, and...

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Challa AP, Lavieri RR, Lewis JT, et al. Systematically Prioritizing Candidates in Genome-Based Drug Repurposing. Assay Drug Dev Technol. 2019;17(8):352-363doi: 10.1089/adt.2019.950.
Challa, A. P., Lavieri, R. R., Lewis, J. T., Zaleski, N. M., Shirey-Rice, J. K., Harris, P. A., Aronoff, D. M., & Pulley, J. M. (2019). Systematically Prioritizing Candidates in Genome-Based Drug Repurposing. Assay and drug development technologies, 17(8), 352-363. https://doi.org/10.1089/adt.2019.950
Challa, Anup P, et al. "Systematically Prioritizing Candidates in Genome-Based Drug Repurposing." Assay and drug development technologies vol. 17,8 (2019): 352-363. doi: https://doi.org/10.1089/adt.2019.950
Challa AP, Lavieri RR, Lewis JT, Zaleski NM, Shirey-Rice JK, Harris PA, Aronoff DM, Pulley JM. Systematically Prioritizing Candidates in Genome-Based Drug Repurposing. Assay Drug Dev Technol. 2019 Nov/Dec;17(8):352-363. doi: 10.1089/adt.2019.950. Epub 2019 Nov 26. PMID: 31769998; PMCID: PMC6921094.
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The Kipoi repository accelerates community exchange and reuse of predictive models for genomics.

Nature biotechnology

Avsec Ž, Kreuzhuber R, Israeli J, Xu N, Cheng J, Shrikumar A, Banerjee A, Kim DS, Beier T, Urban L, Kundaje A, Stegle O, Gagneur J.
PMID: 31138913
Nat Biotechnol. 2019 Jun;37(6):592-600. doi: 10.1038/s41587-019-0140-0.

No abstract available.

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Avsec Ž, Kreuzhuber R, Israeli J, et al. The Kipoi repository accelerates community exchange and reuse of predictive models for genomics. Nat Biotechnol. 2019;37(6):592-600doi: 10.1038/s41587-019-0140-0.
Avsec, �. �., Kreuzhuber, R., Israeli, J., Xu, N., Cheng, J., Shrikumar, A., Banerjee, A., Kim, D. S., Beier, T., Urban, L., Kundaje, A., Stegle, O., & Gagneur, J. (2019). The Kipoi repository accelerates community exchange and reuse of predictive models for genomics. Nature biotechnology, 37(6), 592-600. https://doi.org/10.1038/s41587-019-0140-0
Avsec, Žiga, et al. "The Kipoi repository accelerates community exchange and reuse of predictive models for genomics." Nature biotechnology vol. 37,6 (2019): 592-600. doi: https://doi.org/10.1038/s41587-019-0140-0
Avsec Ž, Kreuzhuber R, Israeli J, Xu N, Cheng J, Shrikumar A, Banerjee A, Kim DS, Beier T, Urban L, Kundaje A, Stegle O, Gagneur J. The Kipoi repository accelerates community exchange and reuse of predictive models for genomics. Nat Biotechnol. 2019 Jun;37(6):592-600. doi: 10.1038/s41587-019-0140-0. PMID: 31138913; PMCID: PMC6777348.
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Showing 1 to 12 of 24 entries