- Oct 2024
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Disease: Von-Willebrand Disorder
Patient 2 Variant(s):
VWF NM_000552.5: c.4135C>T p.(Arg1379Cys) Exon 28 VWF NM_000552.5: c.4130C>T p.(Ala1377Val) Exon 28 VWF NM_000552.5: c.3797C>T p.(Pro1266Leu) Exon 28 VWF NM_000552.5: c.3835G>A p.(Val1279Ile) Exon 28
Note: Pro1266Leu and Val1279Ile are in trans with Ala1377Val and Arg1379Cys
Note2: MAF of Ala1377Val is present in Exome Variant Server (<0.01) and 1000 Genomes database (<0.02), designated as rare variant, typically found in indiv with African ethnicity
Family: Relatives molecular analysis showed Arg1379 and Ala1377Val variants mentioned above were in cis
Patient 2 Phenotype: Mild bleeding symptom Nearly normal VWF:Ag value, reduced VWF:RCo value slight loss of HMWM with smear decreased/slightly decreased proteolysis Slightly reduced RIPA VWFpp/VWF:Ag ratio shows increased VWF clearance VWF platelet levels reduced reduced rBpIba binding in VWF plasma VWF:GPIbM values slightly increased
Note: Treated with desmopressin in case of minor surgeries or delivery
Note 2: Slightly decreased RIPA may be explained by presence of 2B New York Variant (Pro1266Leu) that mitigates RIPA assay in 2M phenotype.
In silico analysis available:
I-Mutant 3.0 states decrease in A1 domain stability for both mutations (Ala1377Val = -0.91, Arg1379Cys = -1.36)
PYMOL predicts Ala1377Val does not alter formation of hydrogen bonds with Arg1374 residue and water. Predicts substitution of ARG 1379 with a cysteine results in the loss of hydrogen bonds with Lys1407 and Lys1408, predicted change in secondary structure of A1 domain
Ala1377Val was previously reported in 3 other patients Publications:
Millar CM, Riddel AF, Mellors G, Yee TT. The spectrum of VWD type 2 phenotypes associated with A1 domain mutations posters. J Thromb Haemost 2009; 7: 531–2.
Logsdon BA, Dai JY, Auer PL et al. A variational Bayes discrete mixture test for rare variant association. Genet Epidemiol 2014; 38: 21–30.
Final note: Authors suggest patients' 2M phenotype is due to the presence of Ala1377Val and Arg1379Cys together to create synergistic effect. Though difficult to discern with this specific patient having two other variants in addition to the two mentioned above.
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- Apr 2024
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scalar.library.yorku.ca scalar.library.yorku.ca
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In at least one other published version the first two items on this list are not peacock fans and Japanese screens but “ormolu garden gates, handleless cups”. The Oxford Book of Victorian Ghost Stories, ed. Michael Cox and R.A. Gilbert
Ormolu is the gilding technique of applying finely ground, high-carat gold–mercury amalgam to an object of bronze, and for objects finished in this way. The mercury is driven off in a kiln leaving behind a gold coating. The French refer to this technique as "bronze doré"; in English, it is known as "gilt bronze". https://en.wikipedia.org/wiki/Ormolu?wprov=sfti1
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- Jun 2023
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css-tricks.com css-tricks.com
- Oct 2022
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scalar.library.yorku.ca scalar.library.yorku.ca
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peacock fans, Japanese screens,
In at least one other published version the first two items on this list are not peacock fans and Japanese screens but “ormolu garden gates, handleless cups”. The Oxford Book of Victorian Ghost Stories, ed. Michael Cox and R.A. Gilbert
Ormolu is the gilding technique of applying finely ground, high-carat gold–mercury amalgam to an object of bronze, and for objects finished in this way. The mercury is driven off in a kiln leaving behind a gold coating. The French refer to this technique as "bronze doré"; in English, it is known as "gilt bronze". https://en.wikipedia.org/wiki/Ormolu?wprov=sfti1
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- Aug 2022
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www.thelancet.com www.thelancet.com
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Karim, S. S. A., & Karim, Q. A. (2021). Omicron SARS-CoV-2 variant: A new chapter in the COVID-19 pandemic. The Lancet, 0(0). https://doi.org/10.1016/S0140-6736(21)02758-6
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www.nature.com www.nature.com
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Lucas, C., Vogels, C. B. F., Yildirim, I., Rothman, J. E., Lu, P., Monteiro, V., Gelhausen, J. R., Campbell, M., Silva, J., Tabachikova, A., Peña-Hernandez, M. A., Muenker, M. C., Breban, M. I., Fauver, J. R., Mohanty, S., Huang, J., Shaw, A. C., Ko, A. I., Omer, S. B., … Iwasaki, A. (2021). Impact of circulating SARS-CoV-2 variants on mRNA vaccine-induced immunity. Nature, 1–9. https://doi.org/10.1038/s41586-021-04085-y
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Pisani, J. (2021, July 9). Amazon to end testing for COVID-19 at warehouses this month. King5.Com. https://www.king5.com/article/news/health/coronavirus/amazon-to-stop-covid-testing/507-63caa9ee-3a30-49af-b2cd-1851637f1807
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www.medrxiv.org www.medrxiv.org
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Kustin, T., Harel, N., Finkel, U., Perchik, S., Harari, S., Tahor, M., Caspi, I., Levy, R., Leschinsky, M., Dror, S. K., Bergerzon, G., Gadban, H., Gadban, F., Eliassian, E., Shimron, O., Saleh, L., Ben-Zvi, H., Amichay, D., Ben-Dor, A., … Stern, A. (2021). Evidence for increased breakthrough rates of SARS-CoV-2 variants of concern in BNT162b2 mRNA vaccinated individuals. MedRxiv, 2021.04.06.21254882. https://doi.org/10.1101/2021.04.06.21254882
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www.huffpost.com www.huffpost.com
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Pearson, C. (2021, September 27). New Study Finds A Huge Perk Of Getting Vaccinated After Having COVID-19. HuffPost UK. https://www.huffpost.com/entry/study-covid-vaccine_l_6151dbbde4b098483a792e18
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twitter.com twitter.com
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www.theguardian.com www.theguardian.com
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Willsher, K. (2021, October 11). French study of over 22m people finds vaccines cut severe Covid risk by 90%. The Guardian. https://www.theguardian.com/world/2021/oct/11/french-study-vaccines-cut-covid-deaths
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www.nature.com www.nature.com
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Dolgin, E. (2021). Omicron is supercharging the COVID vaccine booster debate. Nature. https://doi.org/10.1038/d41586-021-03592-2
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www.theguardian.com www.theguardian.com
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Johnson, S. (2021, June 7). Spat at, abused, attacked: Healthcare staff face rising violence during Covid. The Guardian. http://www.theguardian.com/global-development/2021/jun/07/spat-at-abused-attacked-healthcare-staff-face-rising-violence-during-covid
Tags
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www.theguardian.com www.theguardian.com
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Chrisafis, A. (2021, July 12). France mandates Covid health pass for restaurants and cafés. The Guardian. http://www.theguardian.com/world/2021/jul/12/france-mandates-covid-health-pass-for-restaurants-and-cafes
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www.pbs.org www.pbs.org
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American Academy of Pediatrics urges FDA to approve COVID vaccines for children under 12. (2021, September 13). PBS NewsHour. https://www.pbs.org/newshour/show/american-academy-of-pediatrics-urges-fda-to-approve-covid-vaccines-for-children-under-12
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Monto, A. S. (2021). The Future of SARS-CoV-2 Vaccination—Lessons from Influenza. New England Journal of Medicine, 0(0), null. https://doi.org/10.1056/NEJMp2113403
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Varmus, H. (2021, August 31). Covid has revealed the need for genomic sequencing around the world. Financial Times. https://www.ft.com/content/342fd3c3-5a22-49a0-9cef-135f2ccd8700
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www.theguardian.com www.theguardian.com
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Davis, N. (2021, October 18). Valneva Covid vaccine could be as effective as Oxford jab, study suggests. The Guardian. https://www.theguardian.com/society/2021/oct/18/valneva-covid-vaccine-could-be-as-effective-as-oxford-jab-study-suggests
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www.bmj.com www.bmj.com
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Lauring, A. S., Tenforde, M. W., Chappell, J. D., Gaglani, M., Ginde, A. A., McNeal, T., Ghamande, S., Douin, D. J., Talbot, H. K., Casey, J. D., Mohr, N. M., Zepeski, A., Shapiro, N. I., Gibbs, K. W., Files, D. C., Hager, D. N., Shehu, A., Prekker, M. E., Erickson, H. L., … Self, W. H. (2022). Clinical severity of, and effectiveness of mRNA vaccines against, covid-19 from omicron, delta, and alpha SARS-CoV-2 variants in the United States: Prospective observational study. BMJ, 376, e069761. https://doi.org/10.1136/bmj-2021-069761
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www.bmj.com www.bmj.com
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Torjesen, I. (2021). Covid-19: Omicron may be more transmissible than other variants and partly resistant to existing vaccines, scientists fear. BMJ, 375, n2943. https://doi.org/10.1136/bmj.n2943
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inst-fs-iad-prod.inscloudgate.net inst-fs-iad-prod.inscloudgate.net
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Krause, P. R., Fleming, T. R., Peto, R., Longini, I. M., Figueroa, J. P., Sterne, J. A. C., Cravioto, A., Rees, H., Higgins, J. P. T., Boutron, I., Pan, H., Gruber, M. F., Arora, N., Kazi, F., Gaspar, R., Swaminathan, S., Ryan, M. J., & Henao-Restrepo, A.-M. (2021). Considerations in boosting COVID-19 vaccine immune responses. The Lancet, 4. https://doi.org/10.1016/S0140-6736(21)02046-8
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twitter.com twitter.com
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Sandra Ciesek. (2021, December 8). Unsere ersten Daten zur Neutralisation von Omicron versus Delta sind fertig: 2x Biontech, 2x Moderna, 1xAZ/1x Biontech nach 6 Monaten 0% Neutralisation bei Omicron, auch 3x Biontech 3 Monate nach Booster nur 25% NT versus 95% bei Delta. Bis zu 37fache Reduktion Delta vs. Omicron https://t.co/w0gHww26sg [Tweet]. @CiesekSandra. https://twitter.com/CiesekSandra/status/1468465347519041539
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www.nature.com www.nature.com
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Lipsitch, M., Krammer, F., Regev-Yochay, G., Lustig, Y., & Balicer, R. D. (2021). SARS-CoV-2 breakthrough infections in vaccinated individuals: Measurement, causes and impact. Nature Reviews Immunology, 1–9. https://doi.org/10.1038/s41577-021-00662-4
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www.medrxiv.org www.medrxiv.org
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Collier, A. Y., Brown, C. M., Mcmahan, K., Yu, J., Liu, J., Jacob-Dolan, C., Chandrashekar, A., Tierney, D., Ansel, J. L., Rowe, M., Sellers, D., Ahmad, K., Aguayo, R., Anioke, T., Gardner, S., Siamatu, M., Rivera, L. B., Hacker, M. R., Madoff, L. C., & Barouch, D. H. (2021). Immune Responses in Fully Vaccinated Individuals Following Breakthrough Infection with the SARS-CoV-2 Delta Variant in Provincetown, Massachusetts (p. 2021.10.18.21265113). https://doi.org/10.1101/2021.10.18.21265113
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Wise, J. (2021). Winter is coming—But will the gloomiest forecasts come to pass? BMJ, 374, n2357. https://doi.org/10.1136/bmj.n2357
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osf.io osf.io
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Smith, L., Potts, H., Amlôt, R., Fear, N. T., Michie, S., & Rubin, J. (2022). How has the emergence of the Omicron SARS-CoV-2 variant of concern influenced worry, perceived risk, and behaviour in the UK? A series of cross-sectional surveys. OSF Preprints. https://doi.org/10.31219/osf.io/rpcu2
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plus.tagesspiegel.de plus.tagesspiegel.de
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Karberg, S., & Friebe, R. (2022, January 18). Virologe Drosten im Interview: „Wie lange geht diese Quälerei noch weiter?“. https://plus.tagesspiegel.de/wissen/virologe-drosten-im-interview-wie-lange-geht-diese-qualerei-noch-weiter-361636.html
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www.nature.com www.nature.com
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Meng, B., Abdullahi, A., Ferreira, I. A. T. M., Goonawardane, N., Saito, A., Kimura, I., Yamasoba, D., Gerber, P. P., Fatihi, S., Rathore, S., Zepeda, S. K., Papa, G., Kemp, S. A., Ikeda, T., Toyoda, M., Tan, T. S., Kuramochi, J., Mitsunaga, S., Ueno, T., … Gupta, R. K. (2022). Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts tropism and fusogenicity. Nature, 1–1. https://doi.org/10.1038/s41586-022-04474-x
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www.washingtonpost.com www.washingtonpost.com
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Hamblin, J. (2021, December 9). Perspective | Omicron won’t keep us from ending the pandemic. We’re doing that ourselves. Washington Post. https://www.washingtonpost.com/outlook/2021/12/09/omicron-coronavirus-individual-threat/
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www.newscientist.com www.newscientist.com
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Page, M. L. (2021, March 17). UK variant looks set to cause a surge in global coronavirus cases. New Scientist. https://www.newscientist.com/article/mg24933263-900-uk-variant-looks-set-to-cause-a-surge-in-global-coronavirus-cases/
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assets.publishing.service.gov.uk assets.publishing.service.gov.uk
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SARS-CoV-2 variants of concern and variants under investigation. (2021). 45.
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Vöhringer, H. S., Sanderson, T., Sinnott, M., De Maio, N., Nguyen, T., Goater, R., Schwach, F., Harrison, I., Hellewell, J., Ariani, C. V., Gonçalves, S., Jackson, D. K., Johnston, I., Jung, A. W., Saint, C., Sillitoe, J., Suciu, M., Goldman, N., Panovska-Griffiths, J., … Gerstung, M. (2021). Genomic reconstruction of the SARS-CoV-2 epidemic in England. Nature, 1–11. https://doi.org/10.1038/s41586-021-04069-y
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www.medrxiv.org www.medrxiv.org
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Harris, J. E. (2021). COVID-19 Incidence and Hospitalization During the Delta Surge Were Inversely Related to Vaccination Coverage Among the Most Populous U.S. Counties (p. 2021.08.17.21262195). medRxiv. https://doi.org/10.1101/2021.08.17.21262195
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www.newscientist.com www.newscientist.com
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Le Page, M. (2021, November 22). What we know so far about AY.4.2 and other new coronavirus variants. New Scientist. https://institutions.newscientist.com/article/2298363-what-we-know-so-far-about-ay-4-2-and-other-new-coronavirus-variants/?utm_campaign=echobox&utm_medium=social&utm_source=Twitter
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 14). RT @thehowie: "...The vaccine provided 70 percent protection in fully vaccinated individuals against severe complications that would requir… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1470749072160133128
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www.bbc.co.uk www.bbc.co.uk
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How are new Covid cases impacting sport? (n.d.). BBC Sport. Retrieved December 23, 2021, from https://www.bbc.com/sport/59682938
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 14). RT @thehowie: BREAKING South Africa: 82% increase in cases, week over week. 34.9% positive rate. Record 7-day average. Not near platea… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1470814593610047490
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twitter.com twitter.com
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Dr Nisreen Alwan 🌻. (2021, December 23). We’re in unchartered territory. Https://t.co/O1GGcXpMll [Tweet]. @Dr2NisreenAlwan. https://twitter.com/Dr2NisreenAlwan/status/1474051397570248716
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twitter.com twitter.com
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Kai Kupferschmidt. (2021, December 10). “the severity profile of Omicron cases must be interpreted along with an understanding of its capacity to re-infect (and infect the vaccinated)“ This is what I have been trying to explain the last few days. As usual @nataliexdean does it better (and in color)! [Tweet]. @kakape. https://twitter.com/kakape/status/1469270407995867139
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twitter.com twitter.com
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Yaniv Erlich. (2021, December 8). Updated table of Omicron neuts studies with @Pfizer results (which did the worst job in terms of reporting raw data). Strong discrepancy between studies with live vs pseudo. Https://t.co/InQuWMAm4l [Tweet]. @erlichya. https://twitter.com/erlichya/status/1468580675007795204
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 12). RT @ryan_landay: > A new diverse genome has appeared within the B.1.1.529 lineage that has all of the shared mutations of B.1.1.529, some o… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1470066521615605766
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 9). RT @RachelLavin: As Omicron reality dawns, consider investing in better masks: "....Tight-fitting FFP2 masks provide 75 times better pro… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1474030898551087113
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www.theguardian.com www.theguardian.com
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Campbell, D., Sabbagh, D., & Devlin, H. (2022, January 7). Military deployed at London hospitals due to Omicron staff shortages. The Guardian. https://www.theguardian.com/world/2022/jan/07/military-deployed-at-london-hospitals-due-to-omicron-staff-shortages
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twitter.com twitter.com
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ReconfigBehSci. (2021, November 26). RT @mvankerkhove: Following the meeting of the @WHO TAG-VE today, WHO classifies B.1.1.529 as a variant of concern named Omicron. We call… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1464302372100976650
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 12). RT @EricTopol: If you think Prior Covid protects against Omicron (B.1.1.529), think again https://medrxiv.org/content/10.1101/2021.12.08.21267491v1 and "Neutralizing antibo… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1470434736304803845
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twitter.com twitter.com
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ReconfigBehSci. (2021, November 26). vaccine equity has been a disaster, but I do wonder whether the exclusive focus on donations does the US/EU comparison justice. The EU allowed the export of huge numbers of EU produced doses at a time when the US did not (and EU itself was struggling to meet demand). [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1464255575416520749
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twitter.com twitter.com
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ReconfigBehSci on Twitter: “RT @BNODesk: BREAKING: U.S. reports 716,714 new coronavirus cases, setting world record for cases in one day” / Twitter. (n.d.). Retrieved January 7, 2022, from https://twitter.com/SciBeh/status/1478987541332348933
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Karan, A. (2022). We cannot afford to repeat these four pandemic mistakes. BMJ, 376, o631. https://doi.org/10.1136/bmj.o631
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 23). Risk of hospital stay 40% lower with Omicron than Delta, UK data suggests https://t.co/VupN8hY4qq [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1473916654421643266
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twitter.com twitter.com
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ReconfigBehSci. (2021, November 26). maybe this is a good moment to remind people that makers of mRNA vaccines have been extensively prepping for the possibility of new variants. Biontech/Pfizer have given a timeline of 100 days to the delivery of a retooled version of their vaccine [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1464225264523747359
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www.theatlantic.com www.theatlantic.com
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Kissane, E. (2021, December 23). We’re About to Lose Track of the Pandemic. The Atlantic. https://www.theatlantic.com/ideas/archive/2021/12/were-about-to-lose-track-of-the-pandemic/621097/
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 11). RT @MackayIM: Booster access brought forward to slow spread of Omicron COVID-19 variant https://t.co/PukbPydylw [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1469633384511119364
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twitter.com twitter.com
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Eric Topol. (2022, January 2). As the world turns.....vertical the Omicron signature (|) @OurWorldInData https://t.co/LOBiaiBapD [Tweet]. @EricTopol. https://twitter.com/EricTopol/status/1477433315896430592
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 13). RT @DrEricDing: 11) Omicron is doubling every 1.6 days in UK 🇬🇧 according to @DrWilliamKu’s figure. That’s way faster growth than in South… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1470451594378502154
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twitter.com twitter.com
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Prof. Christina Pagel. (2021, December 23). UKHSA surveillance report shows reinfections rising sharply as Omicron takes hold https://t.co/UGArY4sbOA [Tweet]. @chrischirp. https://twitter.com/chrischirp/status/1474041921249189896
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www.theguardian.com www.theguardian.com
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Thomas, T., & Duncan, P. (2021, December 23). If Omicron is the dominant variant in UK, why is the number of confirmed cases so low? The Guardian. https://www.theguardian.com/world/2021/dec/23/if-omicron-is-the-dominant-variant-in-uk-why-is-the-number-of-confirmed-cases-so-low
Tags
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- omicron
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- COVID-19
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Annotators
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 13). Important update on the now withdrawn @BallouxFrancois tweet identifying hopeful turning of the corner in SA omicron data [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1470311016114364420
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 11). RT @DrEricDing: DOUBLING % in one day: The spike of probable #Omicron variant in Scotland🏴 has critically surged—Now at 13.3%, up fro… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1469596523222781954
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 8). RT @kallmemeg: NEW: @UKHSA Mini Omicron Update Omicron VOC-21NOV-01 (B.1.1.529) update on cases, S gene target failure and risk assessment… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1468673329494216726
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twitter.com twitter.com
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John Burn-Murdoch. (2021, November 25). Five quick tweets on the new variant B.1.1.529 Caveat first: Data here is very preliminary, so everything could change. Nonetheless, better safe than sorry. 1) Based on the data we have, this variant is out-competing others far faster than Beta and even Delta did 🚩🚩 https://t.co/R2Ac4e4N6s [Tweet]. @jburnmurdoch. https://twitter.com/jburnmurdoch/status/1463956686075580421
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www.cnn.com www.cnn.com
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CNN, I. K. (n.d.). Vaccine inequity and hesitancy made the Omicron variant more likely, scientists say. CNN. Retrieved December 23, 2021, from https://www.cnn.com/2021/11/28/world/omicron-coronavirus-variant-vaccine-inequity-intl-cmd/index.html
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ReconfigBehSci. (2021, December 22). RT @chrischirp: Positivity rising steeply too—There are definitely many more people we aren’t catching https://t.co/4xDPwYQtrx [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1473695678610214927
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twitter.com twitter.com
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ReconfigBehSci on Twitter: “RT @chrischirp: As well as Tom’s new one (B.1.1.529), C.1.2 seems to be spreading in S Africa—C.1.2 was the one with lots of worrying mut…” / Twitter. (n.d.). Retrieved December 23, 2021, from https://twitter.com/SciBeh/status/1463597407082532864
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 16). RT @MadsAlbertsen85: #Omicron update from Denmark. Omicron cases on the 12th of December adjusted up to 20.5% (+2%). Omicron is now having… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1471516083819462670
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 11). RT @thehowie: BREAKING: Hospitalizations South Africa Hospitalizations⬆️67% week over week. Gauteng Province⬆️66%. GP⬆️1.6% from yesterd… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1469685234149072897
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 9). a rather worrying development- a (local) newspaper “fact checking” the new German health minister simply by interviewing a virologist who happens to have a different view. There’s simply no established “fact” as to the severity of omicron in children at this point in time [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1469037817481334786
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twitter.com twitter.com
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Trevor Bedford. (2021, December 11). We find that logistic growth of Omicron sequence fraction looks similar between the UK, the US and Germany with roughly 1% of sequenced cases in all three countries being Omicron on Dec 1. 3/10 https://t.co/De0t2xreU9 [Tweet]. @trvrb. https://twitter.com/trvrb/status/1469784757261127685
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www.nature.com www.nature.com
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Gollub, R. L. (2022). Brain changes after COVID revealed by imaging. Nature. https://doi.org/10.1038/d41586-022-00503-x
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 17). RT @EricTopol: No evidence that Omicron is less severe, new @imperialcollege study reports https://ft.com/content/020534b3-5a54-4517-9fd1-167a5db50786 https://t.co/5YYzJ6tVtc [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1472156681098469380
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twitter.com twitter.com
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ReconfigBehSci. (2021, November 26). RT @HZiauddeen: 🧵 COVID-19 & B.1.1.529: A chance for govt & others to change their mind and their approach? While we are still gathering d… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1464200877888184324
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 22). RT @chrishendel: We need increased targeted measures now to slow the spread of #Omicron by @DrSarahHal via @bmj_latest https://t.co/3Tx… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1473987200509521925
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www.washingtonpost.com www.washingtonpost.com
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Perspective | Even the best-case scenario with omicron will still be bad. (n.d.). Washington Post. Retrieved December 23, 2021, from https://www.washingtonpost.com/outlook/2021/12/21/omicron-mild-cases-numbers/
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Covid: Dutch go into Christmas lockdown over Omicron wave. (2021, December 18). BBC News. https://www.bbc.com/news/world-europe-59713503
Tags
- europe
- dutch
- restaurant
- market
- event
- government
- france
- is:news
- netherlands
- booster vaccination
- germany
- bbc
- policy
- school
- Hugo de Jonge
- lang:en
- Mark Rutte
- christmas
- measure
- EU
- law
- variant
- infection
- COVID-19
- restriction
- vaccination
- travel restriction
- omicron
- dominant variant
- UK
- lockdown
Annotators
URL
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twitter.com twitter.com
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Nature Portfolio. (2021, October 15). A study in @NatureMedicine indicates that the effectiveness of the Pfizer/BioNTech and Oxford-AstraZeneca vaccines against SARS-CoV-2 infections with symptoms or high viral burden is reduced with the Delta variant compared to the Alpha variant. Https://go.nature.com/3vecpoj https://t.co/XQdnMYguFz [Tweet]. @NaturePortfolio. https://twitter.com/NaturePortfolio/status/1449145321188216836
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twitter.com twitter.com
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Prof. Shane Crotty. (2021, October 19). 1/ The regular vaccines give great booster responses against Delta and other variants This was first shown by Moderna, with “original recipe” vaccine booster, compare to Beta booster. Https://nature.com/articles/s41591-021-01527-y https://t.co/g7YDwGIURP [Tweet]. @profshanecrotty. https://twitter.com/profshanecrotty/status/1450489709050744833
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twitter.com twitter.com
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ReconfigBehSci [@SciBeh]. (2021, November 26). RT @mvankerkhove: I thank researchers from 🇿🇦 and 🇧🇼 for sharing information with @WHO & the world about B.1.1.529 variant that has been re… [Tweet]. Twitter. https://twitter.com/SciBeh/status/1464196599773642779
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 20). RT @thehowie: South Africa Deaths (7 day average) are near double levels of a few weeks ago. They will go up further. They are only 7.5%… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1472991477672419334
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www.eurekalert.org www.eurekalert.org
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Yale researchers develop RNA-based therapy that clears SARS-CoV-2 from mice. (n.d.). EurekAlert! Retrieved January 9, 2022, from https://www.eurekalert.org/news-releases/934454
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- Jun 2022
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www.frontiersin.org www.frontiersin.org
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whole-genome sequencing (WGS) provides the highest possible subtyping resolution improving the surveillance, outbreak investigation, source attribution, and microbial population studies
Purpose of WGS in population epidemiology
- Surveillance
- Outbreak Investigation
- Source attribution
- Microbial population
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- May 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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DICER1 syndrome is an autosomal-dominant, pleiotropic, tumor-predisposition disorder arising from pathogenic germline variants in DICER1, which encodes an endoribonuclease integral to processing microRNAs (1).
Gene Name: DICER1 PMCID: PMC5443331 PMID: 28323992 HGNCID: not found Inheritance Pattern: autosomal dominant Disease Entity: thyroid cancer and familial multinodular doiter Mutation: germline loss-of-function mutation Zygosity: not provided Variant: c.1870C>T; p.Arg624a, c.1870C>T; p.Arg624a, c.1870C>T; p.Arg624a, c.1870C>T; p.Arg624a, c.3726C>A; p.Tyr1242a, c.3675C>G; p.Tyr1225a, c.3675C>G; p.Tyr1225a Family Information: 145 individuals with a DICER1 germline mutation and 135 controls from 48 families Case: family members used; both males and females used and no significant differences seen among sex; ages range from 20-40 with carriers being significantly younger than controls; no significant differences seen among ethnicity but participants located from the US, UK, and Great Britain CasePresentingHPOs: thyroid cancer or MNG diagnosis common to those with a DICER! mutation but with no chemotherapy or radiation treatment yet CasePreviousTesting: tested levels of thyroid-stimulating hormone, thyroxine, thyroxine-binding globulin, and serum albumin; thyroid palpation; thyroid ultrasound; Sanger or next-generation sequencing assays gnomAD: n/a Mutation Type: missense
Tags
- PMCID:PMC5443331
- HGNCID:notfound
- DiseaseEntity:thyroidcancerandfamilialmultinodulardoiter
- Variant: c.1870C>T; p.Arg624a, c.1870C>T; p.Arg624a, c.1870C>T; p.Arg624a, c.1870C>T; p.Arg624a, c.3726C>A; p.Tyr1242a, c.3675C>G; p.Tyr1225a, c.3675C>G; p.Tyr1225a
- FamilyInformation:145individualswithaDICER1germlinemutationand135controlsfrom48families
- PMID:28323992
- InheritancePattern:autosomaldominant
- Gene:DICER1
- Zygosity:notprovided
- Mutation:germlineloss-of-functionmutation
- MutationType:missense
Annotators
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Pathogenic germline variants in DICER1 underlie an autosomal dominant, pleiotropic tumor-predisposition disorder.
gene name: DICER 1 PMID (PubMed ID): 33570641 HGNCID: n/a Inheritance Pattern: autosomal dominant Disease Entity: benign and malignant tumor mutation Mutation: somatic Zygosity: heterozygous Variant: n/a Family Information: n/a Case: people of all sexes, ages, ethnicities and races participated CasePresentingHPOs: individuals with DICER1-associated tumors or pathogenic germline DICER1 variants were recruited to participate CasePreviousTesting: n/a gnomAD: n/a
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 mutations.
HGNCID:
Tags
- Zygosity: Some Cases displayed homozygosity
- Mutation: c.5428G>T
- Mutation: c.5438 A> C
- Mutation: c.5125G > A
- Mutation: 5428 G>C
- Mutation: c5113G>A
- Disease Entity: Embryonal rhabdomyosarcoma (ERMS)
- case mut: f 28-67
- GeneName: DICER1
- pathogenicity: only 2 of 17 patients died from disease
- Family Information: not identified
- Mutation: c.3580delA
- Mutation: c.4267G>T
- Inheritance Pattern: Non- inheritance(DNA methylation)
- PMID (PubMed ID): 33846547
- Mutation: c.4420A>G
- case wt: m&f 0.5-19
- Variant: Clinvar ID not identified
Annotators
URL
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- Apr 2022
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www.epi-phare.fr www.epi-phare.fr
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Covid-19: Efficacité vaccinale. (2021, October 11). EPI-PHARE. https://www.epi-phare.fr/rapports-detudes-et-publications/impact-vaccination-covid-octobre-2021/
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www.nytimes.com www.nytimes.com
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Times, T. N. Y. (2020, March 3). Coronavirus in the U.S.: Latest Map and Case Count. The New York Times. https://www.nytimes.com/interactive/2021/us/covid-cases.html
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www.covid-19-mobility.org www.covid-19-mobility.org
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Schlosser, F. (2021, November 29). Omicron—Import Risk. Covid-19 Mobility Project. https://www.covid-19-mobility.org/reports/importrisk_omicron/
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twitter.com twitter.com
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Kai Kupferschmidt. (2021, December 1). @DirkBrockmann But these kinds of models do help put into context what it means when certain countries do or do not find the the variant. You can find a full explanation and a break-down of import risk in Europe by airport (and the people who did the work) here: Https://covid-19-mobility.org/reports/importrisk_omicron/ https://t.co/JXsYdmTnNP [Tweet]. @kakape. https://twitter.com/kakape/status/1466109304423993348
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Kai Kupferschmidt. (2021, December 1). @DirkBrockmann That percentage number tells you “how likely an infected passenger from South Africa or Botswana travels to each country and exits the airport there”. So: “0.9% in Germany means that out of 1000 such individuals, 9 are expected to have Germany as their final destination.” [Tweet]. @kakape. https://twitter.com/kakape/status/1466107478807097354
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twitter.com twitter.com
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🇺🇦 Meaghan Kall. (2022, January 27). NEW: 🏴 Vaccine effectiveness (symptomatic infection) data for BA.2 {Omicron’s more infectious sister} NO difference in VE between Omicron (BA.1) and BA.2 Possibly even higher VE for BA.2 but estimates overlap See full thread 🧵 from @freja_kirsebom https://t.co/bJ7uCn2cGV [Tweet]. @kallmemeg. https://twitter.com/kallmemeg/status/1486821549458001927
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