title: Genomics of platelet disorders.
abstract: Genetic diagnosis in families with inherited platelet disorders (IPD) is not performed widely because of the genetic heterogeneity of this group of disorders and because in most cases, it is not possible to select single candidate genes for analysis using clinical and laboratory phenotypes. Next-generation sequencing (NGS) technology has revolutionized the scale and cost-effectiveness of genetic testing, and has emerged as a valuable tool for IPD. This review examines the potential utility of NGS as a diagnostic tool to streamline detection of causal variants in known IPD genes and as a vehicle for new gene discovery.
authors.affiliation: School of Clinical Sciences, University of Bristol, Bristol, UK.
authors.forename: S K
authors.identifier: http://orcid.org/0000-0002-0950-8148
authors.initials: SK
authors.lastname: Westbury
authors.affiliation: School of Clinical Sciences, University of Bristol, Bristol, UK.|Bristol Haemophilia Comprehensive Care Centre, Bristol, UK.|West of England Genomic Medicine Centre, Bristol, UK.
authors.forename: A D
authors.initials: AD
authors.lastname: Mumford
mesh_terms: D001791:Blood Platelet Disorders / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D005820:Genetic Testing; D023281:Genomics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D010641:Phenotype; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics; D017422:Sequence Analysis, DNA; D013921:Thrombocytopenia / Q000151:congenital / Q000175:diagnosis
chemical_list: D019038:Platelet Glycoprotein GPIb-IX Complex
keywords: genetic diagnosis; next-generation sequencing; platelet function disorders; platelet number disorders