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338 results found
Variant classification and interpretationReportWhether and how the American College of Medical Genetics and Genomics (ACMG) sequence variant guidelines should be adopted and implemented.
Delivering improved access to genetic testing in epithelial ovarian cancerReportThis report describes the implementing a clinical genetics-coordinated service in our region to allow improved access to BRCA1/BRCA2 testing for epithelial ovarian cancer patients
Whole genome sequencing for breast cancer risk testingReportExamining the impact of routine breast cancer risk testing using whole genome sequencing
Data sharing to support UK clinical genetics and genomics servicesReportOur recommendations for responsible and proportionate sharing of data for patient benefit
Pathogen genomics into practiceReportPioneering work on converting genomics into population wide, high quality, evidence based pathogen services. Full report, summary and policy briefings
Genetic screening programmes: an international review of assessment criteriaReportLiterature review to identify international criteria for appraising genetic screening programmes and to set out the relevant ethical, legal and social (ELS) issues.
Realising genomics in clinical practiceReportThe Realising Genomics report is intended to inform the ethical clinical implementation of these genomic technologies.
A guide to the investigation of intellectual disability and developmental delay in East AngliaReportRevision of the 2006 guidelines to include a diagnostic flowchart for clinicians supported by updated evidence and new parents' guides.