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Database Resources of the National Genomics Data Center in 2020.

Nucleic acids research

[No authors listed]
PMID: 31702008
Nucleic Acids Res. 2020 Jan 08;48:D24-D33. doi: 10.1093/nar/gkz913.

The National Genomics Data Center (NGDC) provides a suite of database resources to support worldwide research activities in both academia and industry. With the rapid advancements in higher-throughput and lower-cost sequencing technologies and accordingly the huge volume of multi-omics...

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Database Resources of the National Genomics Data Center in 2020. Nucleic Acids Res. 2020;48:D24-D33doi: 10.1093/nar/gkz913.
(2020). Database Resources of the National Genomics Data Center in 2020. Nucleic acids research, 48D24-D33. https://doi.org/10.1093/nar/gkz913
"Database Resources of the National Genomics Data Center in 2020." Nucleic acids research vol. 48 (2020): D24-D33. doi: https://doi.org/10.1093/nar/gkz913
Database Resources of the National Genomics Data Center in 2020. Nucleic Acids Res. 2020 Jan 08;48:D24-D33. doi: 10.1093/nar/gkz913. PMID: 31702008; PMCID: PMC7145560.
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Has the Genome Granted Our Wish Yet?.

The New England journal of medicine

Hunter DJ, Drazen JM.
PMID: 31091368
N Engl J Med. 2019 Jun 20;380(25):2391-2393. doi: 10.1056/NEJMp1904511. Epub 2019 May 15.

No abstract available.

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Hunter DJ, Drazen JM. Has the Genome Granted Our Wish Yet?. N Engl J Med. 2019;380(25):2391-2393doi: 10.1056/NEJMp1904511.
Hunter, D. J., & Drazen, J. M. (2019). Has the Genome Granted Our Wish Yet?. The New England journal of medicine, 380(25), 2391-2393. https://doi.org/10.1056/NEJMp1904511
Hunter, David J, and Drazen, Jeffrey M. "Has the Genome Granted Our Wish Yet?." The New England journal of medicine vol. 380,25 (2019): 2391-2393. doi: https://doi.org/10.1056/NEJMp1904511
Hunter DJ, Drazen JM. Has the Genome Granted Our Wish Yet?. N Engl J Med. 2019 Jun 20;380(25):2391-2393. doi: 10.1056/NEJMp1904511. Epub 2019 May 15. PMID: 31091368.
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The International Genome Sample Resource (IGSR) collection of open human genomic variation resources.

Nucleic acids research

Fairley S, Lowy-Gallego E, Perry E, Flicek P.
PMID: 31584097
Nucleic Acids Res. 2020 Jan 08;48:D941-D947. doi: 10.1093/nar/gkz836.

To sustain and develop the largest fully open human genomic resources the International Genome Sample Resource (IGSR) (https://www.internationalgenome.org) was established. It is built on the foundation of the 1000 Genomes Project, which created the largest openly accessible catalogue of...

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Fairley S, Lowy-Gallego E, Perry E, et al. The International Genome Sample Resource (IGSR) collection of open human genomic variation resources. Nucleic Acids Res. 2020;48:D941-D947doi: 10.1093/nar/gkz836.
Fairley, S., Lowy-Gallego, E., Perry, E., & Flicek, P. (2020). The International Genome Sample Resource (IGSR) collection of open human genomic variation resources. Nucleic acids research, 48D941-D947. https://doi.org/10.1093/nar/gkz836
Fairley, Susan, et al. "The International Genome Sample Resource (IGSR) collection of open human genomic variation resources." Nucleic acids research vol. 48 (2020): D941-D947. doi: https://doi.org/10.1093/nar/gkz836
Fairley S, Lowy-Gallego E, Perry E, Flicek P. The International Genome Sample Resource (IGSR) collection of open human genomic variation resources. Nucleic Acids Res. 2020 Jan 08;48:D941-D947. doi: 10.1093/nar/gkz836. PMID: 31584097; PMCID: PMC6943028.
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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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The DisGeNET knowledge platform for disease genomics: 2019 update.

Nucleic acids research

Piñero J, Ramírez-Anguita JM, Saüch-Pitarch J, Ronzano F, Centeno E, Sanz F, Furlong LI.
PMID: 31680165
Nucleic Acids Res. 2020 Jan 08;48:D845-D855. doi: 10.1093/nar/gkz1021.

One of the most pressing challenges in genomic medicine is to understand the role played by genetic variation in health and disease. Thanks to the exploration of genomic variants at large scale, hundreds of thousands of disease-associated loci have...

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Piñero J, Ramírez-Anguita JM, Saüch-Pitarch J, et al. The DisGeNET knowledge platform for disease genomics: 2019 update. Nucleic Acids Res. 2020;48:D845-D855doi: 10.1093/nar/gkz1021.
Piñero, J., Ramírez-Anguita, J. M., Saüch-Pitarch, J., Ronzano, F., Centeno, E., Sanz, F., & Furlong, L. I. (2020). The DisGeNET knowledge platform for disease genomics: 2019 update. Nucleic acids research, 48D845-D855. https://doi.org/10.1093/nar/gkz1021
Piñero, Janet, et al. "The DisGeNET knowledge platform for disease genomics: 2019 update." Nucleic acids research vol. 48 (2020): D845-D855. doi: https://doi.org/10.1093/nar/gkz1021
Piñero J, Ramírez-Anguita JM, Saüch-Pitarch J, Ronzano F, Centeno E, Sanz F, Furlong LI. The DisGeNET knowledge platform for disease genomics: 2019 update. Nucleic Acids Res. 2020 Jan 08;48:D845-D855. doi: 10.1093/nar/gkz1021. PMID: 31680165; PMCID: PMC7145631.
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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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CRISPR's unwanted anniversary.

Science (New York, N.Y.)

Doudna J.
PMID: 31727803
Science. 2019 Nov 15;366(6467):777. doi: 10.1126/science.aba1751.

No abstract available.

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Doudna J. CRISPR's unwanted anniversary. Science. 2019;366(6467):777doi: 10.1126/science.aba1751.
Doudna, J. (2019). CRISPR's unwanted anniversary. Science (New York, N.Y.), 366(6467), 777. https://doi.org/10.1126/science.aba1751
Doudna, Jennifer. "CRISPR's unwanted anniversary." Science (New York, N.Y.) vol. 366,6467 (2019): 777. doi: https://doi.org/10.1126/science.aba1751
Doudna J. CRISPR's unwanted anniversary. Science. 2019 Nov 15;366(6467):777. doi: 10.1126/science.aba1751. PMID: 31727803.
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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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Showing 1 to 12 of 89 entries