CLEC4M(rs753084254):c.C>T, noted as synonymous protein effect and VarSome classifies it as a VUS.

CLEC4M(rs113080783):c.A>G, noted as missense protein effect and VarSome classifies it as a VUS.

CLEC4M(rs62623420):c.A>G,noted as Splice acceptor protein effect and VarSome classifies it as a VUS.

CLEC4M(rs868878):c.G>A, noted as synonymous protein effect and VarSome classifies it as Benign.

CLEC4M(rs2277998):c.G>A, noted as missense protein effect and VarSome classifies it as Benign

STX2(rs145834567):c.T>C, noted as missense protein effect and Varsome classifies it as a VUS.

STX2(rs137928907):c.A>C, noted as missense protein effect and Varsome classifies it as a VUS.

STX2(rs17564):c.G>C, noted as missense protein effect and Varsome classifies it as Benign.

STXBP5(rs144099092):c.C>G, noted as missense protein effect and VarSome classifies it as a VUS.

STXBP5(rs148830578):c.A>G, noted as missense protein effect and VarSome classifies it as a VUS.

STXBP5(rs34324348):c.C>T, noted as synonymous protein effect and VarSome classifies it as a Likely Benign.

STXBP5(rs34677388):c.A>G,noted as synonymous protein effect and VarSome classifies it as Likely Benign.

STXBP5(rs9390459):c.G>A, noted as synonymous protein effect and VarSome classifies it as Benign.

STXBP5(rs1039084):c.A>G, noted as missense protein effect and VarSome classifies it as Benign.

Variants identified in Swedish VWD patients

ABO(rs139670895):c.C>T, noted as synonymous protein effect and VarSome classifies it as a VUS.

ABO(rs8176751):c.C>T, noted as sysnonymous protein effect and VarSome classifies as Benign

ABO(rs56392308):c.-/GG, noted as frameshift in protein effect and VarSome classifies as Benign

ABO(rs8176749):c.C>T, noted as synonymous in protein effect and VarSome classifies as Benign

ABO(rs1474135537):c.G>A, noted as synonymous in protein effect and VarSome classifies as VUS

ABO(rs8176748):c.C>T, noted as missense in protein effect and VarSome classifies as Benign

ABO(rs8176745):c.G?A, noted as synonymous in protein effect and VarSome classifies as Benign

ABO(rs8176744):c.G>T, noted as synonymous in protein effect and VarSome classifies as Benign

ABO(rs8176743):c.C>T, noted as missense in protein effect and VarSome classifies as Benign

ABO(rs8176742):c.C>T, noted as synonymous in protein effect and VarSome classifies as Benign

ABO(rs8176741):c.G>A, noted as synonymous in protein effect and VarSome classifies as Benign

ABO(rs8176740):c.C>T, noted as missense in protein effect and VarSome classifies as Benign

ABO(rs7853989):c.G>C noted as missense in protein effect and VarSome classifies as Benign

ABO(rs1053878):c.G>A noted as missense in protein effect and VarSome classifies as Benign

ABO(rs8176720):c.T>C, noted as synonymous in protein effect and VarSome classifies as Benign

ABO(rs8176719):c.-/C, noted as frameshift in protein effect and VarSome classifies as Benign

ABO(rs512770):c.G>A, noted as missense in protein effect and VarSome classifies as Benign

ABO(rs688976):c.C>A, noted as missense in protein effect and VarSome classifies as Benign

ABO(rs8176696):c.C>T, noted as missense in protein effect and VarSome classifies as Likely Benign

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.

Disease for patient 1: Von Willebrand Disease Type1, transmitter VWD-type 3

Disease for patient 2: Von Willebrand Disease Type 3

Patient1: 90 YO female (Afro-Caribbean)

Patient2: 40 YO female (Afro-Caribbean)

Notes multiple variants in the VWF gene but have focused on variants in the D4 domain. However cannot discount the impact of some other variants.

Variant 1: VWF NM_000552.5: c.6647del p.(Cys2216Phefs*9), results in VWF protein missing D4 domain and C-terminal end of molecule

Phenotype patient 1: Reduced VWF levels in VWF:Ag, VWF:ristocetin cofactor, FVIII:C, FVIII(VWF:FVIIIB). Bleeding score 0, required Helixate treatment before and after receiving surgery.

Variant 2: VWF NM_000552.5: c.6432dup p.(Pro2145Thrfs*5)

Three sequence variations in family study showed other variants highlighted p.(Cys1149Arg) and p.(Pro2145Thrfs*5) are not on the same allele.

Does have other variants in VWF but they are stated by authors to not be detrimental. p.(Val510=) is noted to be potentially deleterious.

Phenotype patient 2: severely reduced VWF levels, absence of multimers, bleeding score 32, epistaxis, bruising, oral cavity bleeding, prolonged bleeding from minor wounds, menorrhagia, hemarthrosis, ankle arthropathy.

Suggests premature termination codons in these variants may lead to NMD but that this mechanism was found to be PTC position-dependent. Degradation was not 100% and need to perform cellular experiments.

ReconfigBehSci [@SciBeh]. ‘RT @vikkypaedia: B.1.1.529 Seems to Have Gone from 0.1% to 50% in Just a Couple of Weeks, When It Took Delta Several Months to Achieve That…’. Tweet. Twitter, 26 November 2021. https://twitter.com/SciBeh/status/1464194450406752282.

ReconfigBehSci. (2022, January 28). RT @chrischirp: BA.2 & BA.1.1 (Omicron variants) are growing in many countries. Quite what this means in terms of cases, hospitalisation… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1487066966363934720

Anthony J Leonardi, PhD, MS. (2022, January 23). Calling all GBD fans, your continued reinfection loyalty card. Nice one, @PeteUK7 https://t.co/AEMpdI5sr9 [Tweet]. @fitterhappierAJ. https://twitter.com/fitterhappierAJ/status/1485260239557509128

Dr Emma Hodcroft. (2021, May 2). 🗓️https://t.co/wVE7ubYBoy is updated🗓️, with some cool new additions: - B.1.617.1/2 are added as 20A/S:154K & 20A/S:478K 🎉—Beautiful new name table 📑🍾—Mutation list displayed in full as a ‘side-sausage’🌭 Let’s take a tour... 😁 1/7 [Tweet]. @firefoxx66. https://twitter.com/firefoxx66/status/1388921325411053569

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Lots of variants!!!

Stephan Lewandowsky. (2021, May 4). And of course… more myths have to be rebutted on our myths page: Https://t.co/uZ5PTpNHff (although it is good to see how many myths are just variants of older zombie arguments) 3/n [Tweet]. @STWorg. https://twitter.com/STWorg/status/1389549507206172674

Eric Topol on Twitter: “New reports on transmissibility and immune evasiveness for delta (B.1.617.2) lead to an update of this Table of the variants and key properties https://t.co/nGzEa39eF4” / Twitter. (n.d.). Retrieved June 5, 2021, from https://twitter.com/EricTopol/status/1400590583274426370

Since publication, the FDA has rescinded its authorisation of bamlanivimab (LY-CoV555), due to its lack of efficacy against circulating variants of concern, particularly B.1.351 (South African), as a result of E484K substitution A,B. Eli Lilly are now pursuing the use of their combination therapy of bamlanivimab with etesevimab (LY-CoV016).

The antibody cocktail REGN-CoV2 showed sustained efficacy against tested variant strains and thus remains a viable treatment option. However, a mutational library scan by Starr et al. revealed that a single amino acid change (E406W) is all that is required for a future variant to escape this therapy C.

Circulating variants highlight the limited efficacy of monoclonal antibodies to an evolving virus, particularly in those which are restricted to the RBD. A diverse panel of monoclonal antibodies, which bind subdominant epitopes may be a more sustainable approach.

A – Wang, P et al. Antibody resistance of SARS-CoV-2 variants B.1.351 and B.1.1.7. 2021. Nature. https://doi.org/10.1038/s41586-021-03398-2

B – Starr, T.N.et al. Complete map of SARS-CoV-2 RBD mutations that escape the monoclonal LY-CoV555 and its cocktail with LY-CoV016. 2021. Cell Reports Medicine. https://doi.org/10.1016/j.xcrm.2021.100255

C – Starr, T.N.et al. Prospective mapping of viral mutations that escape antibodies used to treat COVID-19. 2021. Science. https://doi.org/10.1126/science.abf9302

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Macvim is the only vim supported out of the box? What about the many of us who want to just use standard CLI vim?

I have similar problem: want to use regular vim in tilix terminal

I had this question too, but didn't know that was the question I had... :)

This explains why the standard vim package on ubuntu doesn't have GUI support (I was going to say because it wouldn't know which GUI you needed, but I think it would based on the Ubuntu variant: GNOME, KDE, etc.) (maybe because it wouldn't know whether you wanted GUI support at all)

I was going to say because it wouldn't know which GUI you needed, but I think it would based on the Ubuntu variant: GNOME, KDE, etc.

found answer to that: https://hyp.is/NyJRxIgqEeuNmWuaScborw/askubuntu.com/questions/345593/how-to-build-vim-with-gui-option-from-sources

so you have to install a different package with GUI support, like vim-gtk or vim-athena

Importantly, to me, you can do this:

/usr/bin/vim.athena --servername local

BU Epi COVID Response Corps on Twitter. (n.d.). Twitter. Retrieved 21 February 2021, from https://twitter.com/EpiCOVIDCorps/status/1362099096102854657

Bredow, R., & Hackenbroch, V. (2021, January 22). Interview with Virologist Christian Drosten “I Am Quite Apprehensive about What Might Otherwise Happen in Spring and Summer.” Der Spiegel, Hamburg, Germany. https://www.spiegel.de/international/germany/interview-with-virologist-christian-drosten-i-am-quite-apprehensive-about-what-might-otherwise-happen-in-spring-and-summer-a-f22c0495-5257-426e-bddc-c6082d6434d5

Petersen, M., Christiansen, L. E., Bor, A., Lindholt, M. F., Jørgensen, F. J., Adler-Nissen, R., … Lehmann, S. (2021, February 9). Communicate Hope to Motivate Action Against Highly Infectious SARS-CoV-2 Variants. https://doi.org/10.31234/osf.io/gxcyn