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Wyszukujesz frazę ""Caswell, RC"" wg kryterium: Autor


Wyświetlanie 1-7 z 7
Tytuł:
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Autorzy:
Caswell RC; 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.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genomics*
State Medicine*
Genetic Testing/methods ; Phenotype
Czasopismo naukowe
Tytuł:
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.
Caswell RC; 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.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Haplotypes*
High-Throughput Nucleotide Sequencing/*methods
Polymerase Chain Reaction/*standards
Sequence Analysis, DNA/*methods
Cytochrome P-450 CYP2D6/genetics ; Genome, Human ; High-Throughput Nucleotide Sequencing/standards ; Humans ; Mutation ; Proto-Oncogene Proteins c-ret/genetics ; Repetitive Sequences, Nucleic Acid ; Sequence Analysis, DNA/standards
Czasopismo naukowe
    Wyświetlanie 1-7 z 7

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