BMC medical genomics, 2022-10, Vol.15 (Suppl 3), p.1-207, Article 207
2022
Details
- Autor(en) / Beteiligte
- Titel
- Implementation of individualised polygenic risk score analysis: a test case of a family of four
- Ist Teil von
- BMC medical genomics, 2022-10, Vol.15 (Suppl 3), p.1-207, Article 207
- Ort / Verlag
- London: BioMed Central Ltd
- Erscheinungsjahr
- 2022
- Link zum Volltext
- Quelle
- SpringerNature Journals
- Beschreibungen/Notizen
- Polygenic risk scores (PRS) have been widely applied in research studies, showing how population groups can be stratified into risk categories for many common conditions. As healthcare systems consider applying PRS to keep their populations healthy, little work has been carried out demonstrating their implementation at an individual level. Our results highlight the need for further standardisation in the way PRS are developed and shared, the importance of individual risk assessment rather than the assumption of inherited averages, and the challenges currently posed when translating PRS into risk metrics.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1755-8794eISSN: 1755-8794DOI: 10.1186/s12920-022-01331-8Titel-ID: cdi_doaj_primary_oai_doaj_org_article_040d01f15ab1464b95c21adacf9d421f
- Format
- –
- Schlagworte
- Autoimmune diseases, Biobanks, Bioinformatics, Breast cancer, Cardiovascular disease, Case Study, Consent, Datasets, Diabetes, Disease prevention, DNA sequencing, Genetic risk, Genomes, Genomics, Health risk assessment, Medical tests, Nucleotide sequencing, Phenotypes, Polygenic risk scores, Population studies, Risk assessment, Risk factors, Software, Type 2 diabetes, Whole genome sequencing