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Akademický článek

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Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline

Autor: Clarke, J, Alikian, M, Xiao, S, Kasperaviciute, D, Thomas, E, Turbin, I, Rose, G, Olupona, K, Cifra, E, Curetean, E, Ferguson, T, Redhead, J, Genomics England Research Consortium, Shovlin, C

Publikováno v: Journal of Medical Genetics

Whole-genome sequencing (WGS) has been championed within the UK National Health Service (NHS) and represents one of the approaches within the forthcoming UK National Genomic Test Directory to identify genetic variants that cause particular rare inher

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7974ef47b6b21c244d92066a6994f616
http://europepmc.org/articles/PMC7691802

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Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation

Autor: Joyce, KE, Onabanjo, E, Brownlow, S, Nur, F, Olupona, K, Fakayode, K, Sroya, M, Thomas, GA, Ferguson, T, Redhead, J, Millar, CM, Cooper, N, Layton, DM, Boardman-Pretty, F, Caulfield, MJ, Genomics England Research Consortium, GE, Shovlin, CL

Publikováno v: Blood advances. 6(13)

The abnormal vascular structures of hereditary hemorrhagic telangiectasia (HHT) often cause severe anemia due to recurrent hemorrhage, but HHT causal genes do not predict the severity of hematological complications. We tested for chance inheritance a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bf478ee6851b091c26816698b876ef9
https://pubmed.ncbi.nlm.nih.gov/35316832

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High definition analyses of single cohort, whole genome sequencing data provides a direct route to defining sub-phenotypes and personalising medicine

Autor: Joyce, KE, Onabanjo, E, Brownlow, S, Nur, F, Olupona, KO, Fakayode, K, Sroya, M, Thomas, G, Ferguson, T, Redhead, J, Millar, CM, Cooper, N, Layton, DM, Boardman-Pretty, F, Caulfield, MJ, Shovlin, CL

Possession of a clinical or molecular disease label alters the context in which life-course events operate, but rarely explains the phenotypic variability observed by clinicians. Whole genome sequencing of unselected endothelial vasculopathy patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1032::a6980a115a7bb8a5c0e4965cb0a1800b
http://hdl.handle.net/10044/1/92928

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North West London Covid-19 Vaccination Programme: Real-world evidence for Vaccine uptake and effectiveness: Retrospective Cohort Study

Autor: Glampson, B, Brittain, J, Kaura, A, Mulla, A, Mercuri, L, Brett, S, Aylin, P, Tessa, S, Goodman, I, Redhead, J, Kavitha, S, Mayer, E

Background: On March 11, 2020 the World Health Organisation declared the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) causing Coronavirus Disease 2019 (COVID-19) syndrome, as a pandemic. The UK mass vaccination programme commenced on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1032::952d05b470f3fb7d6ba4d2e58d126926
http://hdl.handle.net/10044/1/90252

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Assessing COVID-19 vaccine uptake and effectiveness through the north west London vaccination program: retrospective cohort study

Autor: Glampson, B, Brittain, J, Kaura, A, Mulla, A, Mercuri, L, Brett, SJ, Aylin, P, Sandall, T, Goodman, I, Redhead, J, Saravanakumar, K, Mayer, EK

Background: Real world data supporting the effectiveness of the COVID-19 vaccination strategy in the UK population is needed to guide health policy. This real-word data-driven evidence study of the UK COVID-19 Vaccination Programme in the Northwest L

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1032::5e670690a0305d75d53fdd2853b29f65
http://hdl.handle.net/10044/1/91825

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North West London Covid-19 vaccination programme: real-world evidence for vaccine uptake and effectiveness

Autor: Glampson, B, Brittain, J, Kaura, A, Mulla, A, Mercuri, L, Brett, S, Aylin, P, Sandall, T, Goodman, I, Redhead, J, Saravanakumar, K, Mayer, EK

Objective To assess the early vaccine administration coverage and vaccine effectiveness and outcome data across an integrated care system of eight CCGs leveraging a unique population-level care dataset Design Retrospective cohort study. Setting Indiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1032::4a4014bb237ded73d61c26264b9624e5
http://hdl.handle.net/10044/1/88923

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