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Functional filter for whole genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5kb from coding DN

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dc.contributor.authorXiao, Sihao
dc.contributor.authorKai, Zhentian
dc.contributor.authorMurphy, Daniel
dc.contributor.authorLi, Dongyang
dc.contributor.authorPatel, Dilip
dc.contributor.authorBielowka, Adrianna
dc.contributor.authorBernabeu-Herrero, Maria E.
dc.contributor.authorAbdulmogith, Awatif
dc.contributor.authorMumford, Andrew D.
dc.contributor.authorWestbury, Sarah
dc.contributor.authorAldred, Micheala A.
dc.contributor.authorVargesson, Neil
dc.contributor.authorCaulfield, Mark J.
dc.contributor.authorGenomics England Research Consortium
dc.contributor.authorShovlin, Claire L
dc.contributor.institutionUniversity of Aberdeen.Medical Sciencesen
dc.contributor.institutionUniversity of Aberdeen.Molecular and Cellular Functionen
dc.contributor.institutionUniversity of Aberdeen.Institute of Medical Sciencesen
dc.contributor.institutionUniversity of Aberdeen.Medical Sciences - Cell, Developmental and Cancer Biologyen
dc.date.accessioned2023-12-06T14:43:01Z
dc.date.available2023-12-06T14:43:01Z
dc.date.issued2023-11-02
dc.descriptionAcknowledgments: This research was made possible through access to the data and findings generated by the 100,000 Genomes Project. The work was cofounded by the National Institute for Health Research Imperial Biomedical Research Centre, the D’Almeida Charitable Trust, and Imperial College Healthcare NHS Trust. AA was supported by Prince Sultan Military Medical City, Saudi Arabia. MAA was supported by the National Institutes of Health (grant R35HL140019). The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The 100,000 Genomes Project uses data provided by patients and collected by the National Health Service as part of their care and support. We thank the National Health Service staff of the UK Genomic Medicine Centres and the participants for their willing participation; the Genomics England Clinical Research Interface team, specifically Susan Walker, for separately reviewing bam file variant sequences; Charlotte Bevan, Michael Hubank and Santiago Vernia for helpful discussions and manuscript review; and our academic and public partners within the NIHR Imperial BRC’s Social Genetic and Environmental Determinants of Health (SGE) theme. We specifically thank the presented families for confirmation of their clinical phenotypes and consent to share in this manuscript. The views expressed are those of the authors and not necessarily those of funders, the NHS, the NIHR, or the Department of Health and Social Care.en
dc.description.statusPeer revieweden
dc.format.extent16
dc.format.extent426268
dc.format.extent4831488
dc.identifier281533341
dc.identifier9cd412bc-cc5a-4e25-9f15-c0b6899c74a2
dc.identifier37816352
dc.identifier85174674410
dc.identifier.citationXiao, S, Kai, Z, Murphy, D, Li, D, Patel, D, Bielowka, A, Bernabeu-Herrero, M E, Abdulmogith, A, Mumford, A D, Westbury, S, Aldred, M A, Vargesson, N, Caulfield, M J, Genomics England Research Consortium & Shovlin, C L 2023, 'Functional filter for whole genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5kb from coding DN', American Journal of Human Genetics, vol. 110, no. 11, pp. 1903-1918. https://doi.org/10.1016/j.ajhg.2023.09.005en
dc.identifier.doi10.1016/j.ajhg.2023.09.005
dc.identifier.issn0002-9297
dc.identifier.otherORCID: /0000-0001-8027-114X/work/145270798
dc.identifier.urihttps://hdl.handle.net/2164/22351
dc.language.isoeng
dc.relation.ispartofAmerican Journal of Human Geneticsen
dc.subjectR Medicineen
dc.subjectNational Institute for Health Research (NIHR)en
dc.subjectSupplementary Dataen
dc.subject.lccRen
dc.titleFunctional filter for whole genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5kb from coding DNen
dc.typeJournal articleen

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