Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Autorzy:
CaswellRC; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, EX2 5DW, UK. richard.caswell@nhs.net. Gunning AC; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, EX2 5DW, UK.; Institute of Biomedical and Clinical Science, University of Exeter School of Medicine, Exeter, EX2 5DW, UK. Owens MM; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, EX2 5DW, UK. Ellard S; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, EX2 5DW, UK.; Institute of Biomedical and Clinical Science, University of Exeter School of Medicine, Exeter, EX2 5DW, UK. Wright CF; Institute of Biomedical and Clinical Science, University of Exeter School of Medicine, Exeter, EX2 5DW, UK. .
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Źródło:
Genome medicine [Genome Med] 2022 Jul 22; Vol. 14 (1), pp. 77. Date of Electronic Publication: 2022 Jul 22.
Pitfalls of haplotype phasing from amplicon-based long-read sequencing.
Autorzy:
Laver TW; University of Exeter Medical School, RILD Building, Barrack Road, Exeter EX2 5DW, UK. CaswellRC; University of Exeter Medical School, RILD Building, Barrack Road, Exeter EX2 5DW, UK. Moore KA; Wellcome Trust Biomedical Informatics Hub, Geoffrey Pope Building, Stocker Road, University of Exeter, Exeter EX4 4QD, UK. Poschmann J; Wellcome Trust Biomedical Informatics Hub, Geoffrey Pope Building, Stocker Road, University of Exeter, Exeter EX4 4QD, UK. Johnson MB; University of Exeter Medical School, RILD Building, Barrack Road, Exeter EX2 5DW, UK. Owens MM; Department of Molecular Genetics, RILD Level 3, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, UK. Ellard S; University of Exeter Medical School, RILD Building, Barrack Road, Exeter EX2 5DW, UK. Paszkiewicz KH; Wellcome Trust Biomedical Informatics Hub, Geoffrey Pope Building, Stocker Road, University of Exeter, Exeter EX4 4QD, UK. Weedon MN; University of Exeter Medical School, RILD Building, Barrack Road, Exeter EX2 5DW, UK.
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Źródło:
Scientific reports [Sci Rep] 2016 Feb 17; Vol. 6, pp. 21746. Date of Electronic Publication: 2016 Feb 17.
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