1,591 Matching Annotations
  1. Aug 2025
    1. Ensure that the product image updates accurately and consistently when users select a product variation by:Using a centralized, reliable image source tied to each variant.Dynamically updating the product image based on the selected variant.Providing graceful fallbacks when a variant-specific image is not available.

      Ensure accurate Shopify variant image loading on selection with proven methods. Enhance user experience, reduce bounce rate & improve product display.

    1. The objective is to provide an enhanced product viewing experience by:Displaying a dedicated image gallery or slider for each product variation.Dynamically loading and rendering the correct set of images when the user selects a variation (e.g., color, material).Organizing images per variant to reflect the actual look and feel of the selected option.

      Explore whether to use sliders or static views for Shopify variant image galleries. Learn which layout offers better UX and performance for your store.

    1. Dynamically updating product images based on the selected variant (e.g., color or size).Mapping and displaying the correct image associated with the currently selected variant.Avoiding mismatched visuals that can confuse users and increase return rates.

      Learn how to change product image on variant select Shopify using JavaScript and theme customizations for better UX.

  2. Apr 2025
    1. Disease: Von-willebrand Disease (Type 2A)

      Patient: 50 yo female

      Variant: VWF NM_000552.5 c:4232_4249del p.(Val411_Ile416del), Exon 28, heterozygous variant

      According to this paper, ACMG-AMP guidelines for interpreting this variant resulted in classification of likely pathogenic

      Phenotypes: increased bruising, fatigue, recurrent sinusitis, menorrhagia, neutropenia, anaemia. Reduction in high-molecular-weight multimers

      Family: segregation analysis showed two affected family members had the variant and two unaffected family members did not have variant.

      Note: Patient also has diagnosed Acute Myeloid Leukaemia (AML) NM_000546.6(TP53):c704A>G p.(Asn235Ser), listed as VUS and found by NGS

  3. Feb 2025
    1. Disease: Von-willebrand Disorder (2N)

      Patient: 32 yo, male

      Variant: VWF NM_000552.5 c:2527C>T, p.(Arg760Cys), exon 17, noted to be dominant effect

      Note: Proband also has an Arg91Gln mutation in exon 20 of VWF too.

      Phenotypes: Mild bleeding history, epistaxis, bleeding gums, bleeding after tooth extraction. 11 years old had severe hemorrhage following tonsillectomy. Previous diagnosis of hemophilia A.

      Family: father has history of epistaxis but never eamined prior to study. Father has the Arg760Cys mutation at heterozygous level. Mother is asymptomatic and classified as hemophilia A carrier following hemophilia A diagnosis in son. Mother also has the Arg91Gln mutation in exon 20 at heterozygous level.

      Molecular Phenotypes: mild decrease in plasma FVIII and VWF levels, normal platelet VWF content, decreased FVIII binding capacity of VWF. Causes retention of pro-VWF(suggest defects in the maturation process of VWF). Abnormal VWF and platelet GPIb interaction(documented by impaired or absent RIPA and decreased VWF:RCo).

    1. Disease: Von-willebrand Disorder Type 2B, Noncanonical

      Patient: 55 YO, Italian male

      Note: these heterozygous variants are in cis mutations

      Variant1: VWF NM_000552.5 c.2771G>A p.(R924Q), in exon 21, D'D3 domain affected

      Variant2: VWF NM_000552.5 c.6532G>T p.(A2178S), in exon 37, D4 domain affected

      Phenotypes: Mucosal and cutaneous bleeding, low VWF antigent and VWF activity, mild thrombocytopenia, increased ristocetin-induced platelet aggregation, deficiency in high-molecular-weight multimers. Epistaxis, repeated GI bleeding, easy bruising, ISTH BAT score of 7.

      Note: Proband initially diagnosed with VWD type 1 in 2010 but later re-diagnosed as VWD-Type 2.

      Family: No reported family history of bleeding, parents unable to be included in family work-up as they were deceased by time of study. Paternity test was performed for family, parental link established. Patient's daughter does not present the same mutation noted in proband but has heterozygous polymorphic variant inherited from mother which is: VWF NM_000552.5 c.3379C>T p.(P1127S), in exon 25. Daughter did not show menorrhagia or hemorrhagic disorder except for large hematoma on the thigh after trauma of moderate intensity.

      Molecular workup: Paternity test, Sanger-sequencing to validate genetic variants, multimer analysis with electrophoresis, platelet aggregation analysis with Ristocetin, electron micrographs to observe conformation differences.

      Prediction workup: Structural analysis with I-TASSER modeling program to identify perturbed structure. A2178S is predicted as tolerated in all in-silico systems used.

      Database Information: Effect of the R924Q mutation is noted in literature database but has contradicting reports of effects altering VWF levels. Some studies do report it as a polymorphic variant

      Variant is present in dbSNP database (rs33978901). MAF in European population 0.01< MAF< 0.02

      Effect of A2178S variant is present in dbSNP database (rs34230288), MAF = 0.02 in European population.

  4. Jan 2025
    1. Disease: Myopathic Ehlers-Danlos Syndrome (mEDS)

      Patient(s): 47 yo male, japanese descent

      Variant: COL12A1 NM_004370.6: c.395-1G>A (Homozygous variant, at splice acceptor site in exon 6, causes in-frame skipping)(located in the genomic region encoding the first von Willebrand factor A domain)

      Family: consanguineous parents with no related features of mEDS, healthy older brother

      Phenotypes (Childhood): hypotonia, weak spontaneous movements, scoliosis, torticollis, soft plams, undescended testes, motor developmental delay, slender build, triangular face, short palpebral fissures, small nose, small mouth, large ears, bilateral knee dislocations, short stature.

      Phenotypes (Adulthood): short stature, high palate, hypermobile small joints, deformed cervical spine, brachycephaly, bilateral long deformed 5th finger, severe scoliosis post surgical fixation, asymmetric pelvis

      Classification: sequencing panel found the variant and it was confirmed through sanger sequencing.

      According to ClinGenSVI recommendation: PVS1_Strong

      Applicable criteria:

      1) the one at a GT-AG 1,2 splice site

      2) the one exerting exon skipping or use of a crypic splice site that preserved the reading frame.

      3) the one at a truncated/altered region critical to protein function; was classified as PM3_Supporting (homozygous)

      Variant not registered in gnomAD (PM2_Supporting)

      Partial defect of first vWA in collagen XII judged as PS3

  5. Dec 2024
    1. Disease: Von Willebrand Disease (VWD)

      Patient(s): Found in 2 families

      Variant: VWF NM_000552.5: c.2311A>G, p.(M771V Homozygous variant in exon 18 (VWF D' domain; 8 residues down from proteolytic VWFpp furin cleavage site)

      Family: In family 1 there are 4 homozygous patients (2 male and 2 female), and one heterozygous patient (1 female). The affected females are denoted as person 1 and person 4 and the affected males are person 2 and person 3. There are three WT family members (1 female and 2 male), grandparents of these members are of unknown genotype including a daughter of an affected female and a WT male. Note here that in the family a p.R2663P variant has co-segregated with the above-mentioned variant but is not suspected to be the pathogenic driver of resulting bleeding tendency.

      In family 2 the parents of the homozygous affected male are of unknown genotype. The affected male is denoted as person 7.

      Phenotypes: Person 1- nose bleed, skin bleed, GI bleeding, oral cavity bleeds, Menorrhagia, muscle bleeding, and joint bleeding. Receives on-demand treatment for bleeding.

      Person 2-Nose bleed, skin bleed, bleeding from small wounds, oral cavity bleeds, bleeding after tooth extraction, joint bleeding. Received prophylactic treatment, reduced to on-demand treatment after a few years.

      Person 3-Nose bleed, skin bleed, oral cavity bleeds, bleeding after tooth extraction, muscle bleeding. Receives on-demand treatment for bleeding phenotype.

      Person 4- Nose bleed, bleeding from small wounds, oral cavity bleed, bleeding after tooth extraction, joint bleeding. Received prophylactic treatment that was increased after her menarche.

      Person 7- Nose bleed, oral cavity bleeds, bleeding after surgery or trauma, joint bleeding. Previously on prophylaxis, now managing bleeding with on-demand treatment.

      Note that both the p.R2663P co-segregated variant and p.M771V variant are reported in NCBI dbSNP database but functional effect not yet established.

      NGS confirmed the genotype of all study participants.

    1. Disease: Von-willebrand Disorder Type 3

      Patient: 26 yo, female

      Variant: VWF NM_000552.5 c:997+118 T>G g.(6073501 A>C), homozygous, intronic

      Phenotypes: No detectable VWF in plasma, early onset bleeding complications, epistaxis, easy bruising, bleeding following injury, menorrhagia, iron-deficient anemia

      Note: underwent prophylaxis replacement therapy, on-demand antihemorrhagic treatments, oral contraceptives, and replacement therapy.

      Family: not mentioned

      Predictions:

      VEP SpliceAI tool predicted variant likely deleterious (delta score 0.95)

      Used Polyphen-2 and SIFT which determined pathogenic likelihood.

      Neural Network Splicing, Alternative Splice Site Predictor, plug-in MaxEnt(For 5' donor site) of Human Splicing Finder all concur this variant can create a new donor splice site in intron 8. Contains premature stop codon and susceptible to NMD.

      Functional work:

      qRT-PCR performed to identify levels of VWF in IP-derived endothelial cells.

      histochemical immunostaining for IP-derived endothelial cells confirm no VWF production, only a residual amount present. Suggests leaky mutation.

      performed RNA sequencing to assess co-regulated gene networks

  6. Nov 2024
    1. Disease: Platelet-type Von-willebrand Disorder (PT-VWD)

      Patient: 17 yo, male, adopted

      Variant: GP1BA NM_000173.7: c:580C>T p.(P.Leu194Phe), Heterozygous, gain-of-function

      Phenotypes: moderate bleeding phenotype, ISTH-BAT bleeding score of 3, recurrent epistaxis, easy bruising, mild thrombocytopenia

      Family: Adopted, no other family history mentioned, segregation studies not performed.

      Genetic analysis performed: found variant in GP1BA, results obtained by sanger sequencing.

      Variant present in gnomAD(rs368111193): low allele frequency, contradictory classifications

      Variant is not present in ClinVar, LOVD, or HGMD databases

      According to this paper, ACMG guidelines classified this variant as a VUS.

      This paper entered it into Clinvar (var ID 1693270)

  7. Oct 2024
    1. Disease: Von Willebrand Disease (VWD) Type 2A

      Patient: 31 yo, Female

      Variant1: VWF NC_000012.12: c.875-5T>Gdel, p.(Ser292_Glu333delinsLys) Causes complete exon 8 skipping

      Variant2: VWF NM_000552.5: c.813C>G, p.(Tyr271*)

      Phenotypes: History of bleeding (epistaxis, uncontrollable by conventional hemostatic treatment), Easy bruising, gum bleeding, excessive menstrual bleeding, mild decrease in plasma VWF:Ag, severe impairment in VWF function, VWF:Ab/VWF:Ag ratio decreased, VWF:CB/VWF:Ag ratio decreased, FVIII:C lvs slighly below normal range

      Family: Son had bleeding diathesis and spontaneous epistaxis (less severe than proband), normal parents

      In silico data available: SpliceAI delta score of 0.51 for loss of splice acceptor caused by variant 1

      Alamut showed small to moderate effects of the variant on normal splicing of VWF

      NetGene2 showed weak strength of 3' splice sites in exon 8

      SpliceAid2 showed TIA-1 and TIAL 1, which bind to U-rich motifs and facilitate 5' splice site recognition where destroyed in the mutated sequence

    1. 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.

  8. Apr 2024
    1. 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

  9. Jun 2023
  10. Oct 2022
    1. 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

  11. Aug 2022
    1. 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

    1. 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

    1. 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

    1. 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

    1. 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

    1. 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

    1. 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

    1. 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

    1. 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

    1. 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

    1. 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

    1. 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

    1. 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

  12. Jun 2022
    1. 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

      1. Surveillance
      2. Outbreak Investigation
      3. Source attribution
      4. Microbial population
  13. May 2022
    1. 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

    1. 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

  14. Apr 2022
    1. 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

    1. 🇺🇦 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

    1. Tom Wenseleers. (2022, January 23). @HarrySpoelstra @trvrb @CorneliusRoemer @JosetteSchoenma BA.2 has a growth rate advantage over BA.1 of ca 0.11/day. That’s quite sizeable. If it would have the same short generation time as BA.1 of 2.2 days it would imply a ca.1.3x higher transmissibility, due to higher contagiousness or immune escape. Https://t.co/X8TcWJ4pXQ [Tweet]. @TWenseleers. https://twitter.com/TWenseleers/status/1485375883066101763

    1. Shalin Naik [@shalinhnaik]. (2021, October 14). 📢The first episode of the @thejabgab http://thejabgab.com is LIVE!! 🎙 Join me and the fabulous comedians @nazeem_hussain and @calbo as they chat about the Delta variant, vaccines …. And cows? With experts @DrKGregorevic and @BedouiSammy! Search your fav platform or... Https://t.co/bo4HiRfqF6 [Tweet]. Twitter. https://twitter.com/shalinhnaik/status/1448510610837159939

    2. Shalin Naik. (2021, October 14). 📢The first episode of the @thejabgab http://thejabgab.com is LIVE!! 🎙 Join me and the fabulous comedians @nazeem_hussain and @calbo as they chat about the Delta variant, vaccines …. And cows? With experts @DrKGregorevic and @BedouiSammy! Search your fav platform or... Https://t.co/bo4HiRfqF6 [Tweet]. @shalinhnaik. https://twitter.com/shalinhnaik/status/1448510610837159939

    1. Dr Dominic Pimenta [@DrDomPimenta]. (2021, December 15). An illustration of communicating risk with “less severe” variants: [Thread] Assume Omicron is 4x more transmissible than Delta. [1] Assume Omicron leads to 1/3 less admissions than Delta. [Figure below] Assume 1 in 100 cases of Delta are admitted to hospital. Https://t.co/XtnVwoOrUo [Tweet]. Twitter. https://twitter.com/DrDomPimenta/status/1471094002808242177

    1. The DICER1 syndrome is an autosomal dominant tumor‐predisposi-tion disorder associated with pleuropulmonary blastoma, a rare pediatric lung cancer

      GeneName:DICER1 PMID (PubMed ID): PMCID: PMC6418698 PMID: 30672147 HGNCID: NOT LISTED<br /> Inheritance Pattern: Autosomal Dominant Disease Entity: Cancer; benign and malignant tumors including pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumors, multinodular goiter, Thryoid cancer, rhabdomyosarcoma, and pineoblastoma. Mutation: Somatic missense variation Mutation type: missense Zygosity: None stated Variant: unregistered…. Family Information: Characterize germline variants in familial early-onset clorectal cancer patients; The observation of germline DICER1 variation with uterine corpus endometrial carcinoma merits additional investigation. CasePresentingHPOs: uterine and rectal cancers in germline mutation

    1. DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer types.

      GeneName = DICER1 PMID = 29762508 HGNCID = Can't find Inheritance pattern = Autosomal dominant Disease entity = cancer, multinodular goiter, pleuropulmonary blastoma, cystic nephroma, ovarian Sertoli-Leydig cell tumor Mutation = germline OR somatic Zygosity = causes loss of heterozygosity Variant = unregistered Family = those with the mutation almost always passed it on

    1. Pérez-Then, E., Lucas, C., Monteiro, V. S., Miric, M., Brache, V., Cochon, L., Vogels, C. B. F., Cruz, E. D. la, Jorge, A., Santos, M. D. los, Leon, P., Breban, M. I., Billig, K., Yildirim, I., Pearson, C., Downing, R., Gagnon, E., Muyombwe, A., Razeq, J., … Iwasaki, A. (2021). Immunogenicity of heterologous BNT162b2 booster in fully vaccinated individuals with CoronaVac against SARS-CoV-2 variants Delta and Omicron: The Dominican Republic Experience (p. 2021.12.27.21268459). medRxiv. https://doi.org/10.1101/2021.12.27.21268459

    1. Carl T. Bergstrom. (2021, August 18). 1. There has been lots of talk about recent data from Israel that seem to suggest a decline in vaccine efficacy against severe disease due to Delta, waning protection, or both. This may have even been a motivation for Biden’s announcement that the US would be adopting boosters. [Tweet]. @CT_Bergstrom. https://twitter.com/CT_Bergstrom/status/1427767356600688646

    1. Eric Topol. (2021, June 9). Despite increasing incentives, the US vaccination campaign is really struggling. Notably, the top 5 states are approaching 60% total population fully vaccinated which should provide strong protection vs the delta variant. A different story for the bottom 5 states @OurWorldInData https://t.co/boqk3Khhuc [Tweet]. @EricTopol. https://twitter.com/EricTopol/status/1402413221667954690

    1. Hilda Bastian, PhD. (2021, February 6). Unofficial unnamed AstraZeneca insider says they are doing the interim analysis for the US trial of the Oxford vaccine. AstraZeneca spokesperson says 4-6 weeks till data release. Https://t.co/VUHgbHN02d One is wrong? Or they’ll release only when have FDA minimum follow-up? Https://t.co/LgjfX8AIti [Tweet]. @hildabast. https://twitter.com/hildabast/status/1357862227106095105

    1. Alessandro Vespignani. (2021, April 14). “Genomics and epidemiology of the P.1 SARS-CoV-2 lineage in Manaus, Brazil”—P.1 may be 1.7–2.4-fold more transmissible—Previous (non-P.1) infection provides 54–79% of the protection against infection with P.1 that it provides against non-P.1 lineages https://t.co/aUpL4YOFYo https://t.co/YniaLb9YiF [Tweet]. @alexvespi. https://twitter.com/alexvespi/status/1382370044374511621

    1. Prof. Christina Pagel. (2021, May 3). THREAD: Update on B.1.617 (‘India’) variant in England using latest data from the Sanger institute. This data excludes sequenced cases from travellers & surge testing so ‘should be an approximately random sample of positive tests in the community’ TLDR: warning signs! 1/10 https://t.co/0UzhM8GNIA [Tweet]. @chrischirp. https://twitter.com/chrischirp/status/1389273187586875396

    1. Denise Dewald, MD 🗽. (2021, August 12). Here are some modeling predictions for the delta variant from COVSIM (group at North Carolina State): PLEASE CHECK THIS OUT - RESOURCES TO SHARE WITH YOUR SCHOOL DISTRICT School-level COVID-19 Modeling Results for North Carolina for #DeltaVariant https://t.co/zU5hB9bKlY [Tweet]. @denise_dewald. https://twitter.com/denise_dewald/status/1425626289399009288

    1. Marc Lipsitch. (2021, July 20). At the risk of boiling down too much and certainly losing some detail, one way to summarize this wonderful thread is that when we think about vaccine effectiveness, we should think of 4 key variables: 1 which vaccine, 2 age of the person, 3 how long after vax, 4 vs what outcome. [Tweet]. @mlipsitch. https://twitter.com/mlipsitch/status/1417595538632060931

    1. Prof. Christina Pagel 🇺🇦. (2021, November 25). THREAD on the new variant B.1.1.529 summarising what is known from the excellent South African Ministry of Health meeting earlier today TLDR: So much uncertain but what is known is extremely worrying & (in my opinion) we should revise red list immediately. This is why: 1/16 [Tweet]. @chrischirp. https://twitter.com/chrischirp/status/1463885539619311616

    1. Abu-Raddad, L. J., Chemaitelly, H., Ayoub, H. H., AlMukdad, S., Tang, P., Hasan, M. R., Coyle, P., Yassine, H. M., Al-Khatib, H. A., Smatti, M. K., Al-Kanaani, Z., Al-Kuwari, E., Jeremijenko, A., Kaleeckal, A. H., Latif, A. N., Shaik, R. M., Abdul-Rahim, H. F., Nasrallah, G. K., Al-Kuwari, M. G., … Bertollini, R. (2022). Effectiveness of BNT162b2 and mRNA-1273 COVID-19 boosters against SARS-CoV-2 Omicron (B.1.1.529) infection in Qatar (p. 2022.01.18.22269452). medRxiv. https://doi.org/10.1101/2022.01.18.22269452

    1. Prof. Shane Crotty. (2021, December 8). 3 studies today on antibodies & Omicron. 🔵 There may be a large drop in neutralization of Omicron 🔵 Antibodies stop Omicron well in hybrid immunity (infected+vax) 🔵 Sotrovimab is active versus Omicron Take home: Get vaccinated. Get boosted. Immune system is clever. 🧵 1/n [Tweet]. @profshanecrotty. https://twitter.com/profshanecrotty/status/1468390479280574472

  15. Mar 2022
    1. Mia Malan. (2021, November 25). [Thread] What is the potential impact of the new B.1.1.529 #COVID19 variant? @rjlessells: 1. It’s relatively simple to detect some B.1.1.529 cases, as it’s possible to use PCR tests to do this in some cases 2. B.1.1.529 = has many mutations across different parts of the virus https://t.co/ytktqLzJUi [Tweet]. @miamalan. https://twitter.com/miamalan/status/1463846528578109444

  16. Feb 2022
    1. Marc Stegger. (2022, February 22). New preprint on #COVID19 is out: “Occurrence and significance of Omicron BA.1 infection followed by BA.2 reinfection”. Using the national surveillance system in Denmark, we show that reinfections with #SARSCoV2 VOC #Omicron BA.2 can occur after recent BA.1 infection #SSI_dk https://t.co/Cm0n8vga4P [Tweet]. @MarcStegger. https://twitter.com/MarcStegger/status/1496099303143653379

    1. Kok, K.-H., Wong, S.-C., Chan, W.-M., Lei, W., Chu, A. W.-H., Ip, J. D., Lee, L.-K., Wong, I. T.-F., Lo, H. W.-H., Cheng, V. C.-C., Ho, A. Y.-M., Lam, B. H.-S., Tse, H., Lung, D., Ng, K. H.-L., Au, A. K.-W., Siu, G. K.-H., & Yuen, K.-Y. (2022). Cocirculation of two SARS-CoV-2 variant strains within imported pet hamsters in Hong Kong. Emerging Microbes & Infections, 1–39. https://doi.org/10.1080/22221751.2022.2040922

    1. Stegger, M., Edslev, S. M., Sieber, R. N., Ingham, A. C., Ng, K. L., Tang, M.-H. E., Alexandersen, S., Fonager, J., Legarth, R., Utko, M., Wilkowski, B., Gunalan, V., Bennedbæk, M., Byberg-Grauholm, J., Møller, C. H., Christiansen, L. E., Svarrer, C. W., Ellegaard, K., Baig, S., … Rasmussen, M. (2022). Occurrence and significance of Omicron BA.1 infection followed by BA.2 reinfection (p. 2022.02.19.22271112). medRxiv. https://doi.org/10.1101/2022.02.19.22271112

    1. Tseng, H. F., Ackerson, B. K., Luo, Y., Sy, L. S., Talarico, C. A., Tian, Y., Bruxvoort, K. J., Tubert, J. E., Florea, A., Ku, J. H., Lee, G. S., Choi, S. K., Takhar, H. S., Aragones, M., & Qian, L. (2022). Effectiveness of mRNA-1273 against SARS-CoV-2 Omicron and Delta variants. Nature Medicine, 1–1. https://doi.org/10.1038/s41591-022-01753-y

    1. Cornelius Roemer. (2022, February 12). Fantastic work by @UKHSA comparing serial intervals of BA.1, BA.2 and Delta as published in the most recent technical briefing. BA.2 seems to have even shorter serial interval than BA.1 This could help explain different relative growth rates of BA.2 vs BA.1 in different countries https://t.co/Gch94Ew8CX [Tweet]. @CorneliusRoemer. https://twitter.com/CorneliusRoemer/status/1492434232664375304

    1. Altarawneh, H. N., Chemaitelly, H., Hasan, M. R., Ayoub, H. H., Qassim, S., AlMukdad, S., Coyle, P., Yassine, H. M., Al-Khatib, H. A., Benslimane, F. M., Al-Kanaani, Z., Al-Kuwari, E., Jeremijenko, A., Kaleeckal, A. H., Latif, A. N., Shaik, R. M., Abdul-Rahim, H. F., Nasrallah, G. K., Al-Kuwari, M. G., … Abu-Raddad, L. J. (2022). Protection against the Omicron Variant from Previous SARS-CoV-2 Infection. New England Journal of Medicine, 0(0), null. https://doi.org/10.1056/NEJMc2200133

    1. Ali Ellebedy. (2021, December 30). We need those who are adept at #SciComm to explain that “Omicron” is sufficiently different from the original strain that was used to make the vaccine. Therefore, the definition of “fully vaccinated” will have to be updated, but that does not mean that the vaccines have failed. [Tweet]. @TheBcellArtist. https://twitter.com/TheBcellArtist/status/1476649138691444740

    1. Ulrich Elling. (2022, January 12). While #Omicron BA.1 leads the race, the little sister BA.2 is catching up in numbers. They are rather different with likely functional implications. BA.2 might be more immune evasive in RBD, less in NTD. And due to reduced mutation load in NTD maybe different fusion properties? Https://t.co/kEACjzQDs3 [Tweet]. @EllingUlrich. https://twitter.com/EllingUlrich/status/1481214901997682692

    1. Jonathan Li on Twitter: “There’s a lineage of Omicron that’s gained the R346K mutation (BA.1.1). This one could spell some trouble for the AZ mAb (tixagevimab/cilgavimab, Evusheld) that’s being used for pre-exposure prophylaxis. If you want to learn about tix/cil vs Omicron, read on 1/7” / Twitter. (n.d.). Retrieved February 6, 2022, from https://twitter.com/DrJLi/status/1487479972293853188