title: Human sex development: targeted technologies to improve diagnosis.
abstract: A new study of disorders of sex development presents an improved targeted next-generation sequencing approach for their diagnosis.Please see related Research article: http://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-1105-y .
authors.affiliation: Genetics and Genomic Medicine, UCL Great Ormond Street Institute for Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
authors.forename: Federica
authors.initials: F
authors.lastname: Buonocore
authors.affiliation: Genetics and Genomic Medicine, UCL Great Ormond Street Institute for Child Health, 30 Guilford Street, London, WC1N 1EH, UK. j.achermann@ucl.ac.uk.
authors.forename: John C
authors.initials: JC
authors.lastname: Achermann
mesh_terms: D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D005260:Female; D005820:Genetic Testing; D006059:Gonadal Dysgenesis / Q000235:genetics* / Q000473:pathology; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D019849:Sex Determination Processes
keywords: DSD; Disorders of sex development; Genetic testing; Gonadal dysgenesis; Haloplex; Sex determination