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The clinical use of polygenic risk scores.
Terkelsen, Thorkild; Hansen, Thomas Folkmann; Herlin, Morten Krogh; Djursby, Malene; Nyegaard, Mette; Pedersen, Inge Søkilde; Lildballe, Dorte Launholt; Færgeman, Søren Lejsted; Sunde, Lone; Hauberg, Mads Engel.
Afiliação
  • Terkelsen T; Klinisk Genetisk Afdeling, Aarhus Universitetshospital.
  • Hansen TF; Brunak Group, Københavns Universitet.
  • Herlin MK; Klinisk Genetisk Afdeling, Aarhus Universitetshospital.
  • Djursby M; Klinisk Genetisk Afdeling, Københavns Universitetshospital - Rigshospitalet.
  • Nyegaard M; Institut for Medicin og Sundhedsteknologi, Aalborg Universitet.
  • Pedersen IS; Afsnit for Molekylær Diagnostik, Aalborg Universitetshospital.
  • Lildballe DL; Molekylær Medicinsk Afdeling, Aarhus Universitetshospital.
  • Færgeman SL; Klinisk Genetisk Afdeling, Aarhus Universitetshospital.
  • Sunde L; Klinisk Genetisk Afdeling, Aalborg Universitetshospital.
  • Hauberg ME; Hormon- og Knoglesygdomme, Aarhus Universitetshospital.
Ugeskr Laeger ; 185(39)2023 09 25.
Article em Da | MEDLINE | ID: mdl-37873989
Polygenic risk scores (PRS) identify at-risk individuals for many common diseases. A discussion of strengths and limitations is carried out in this review. PRS complement traditional genetic testing and have shown utility in establishing a proper diagnosis and guiding primary and secondary prevention. Some individuals with high PRS have risks similar to those with monogenic predisposition. Limitations include potential misinterpretations, problems with application across ancestries, and limited usefulness in low-heritability traits. Despite its shortcomings PRS are predicted to play major roles in the future of personal medicine and genetic testing.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Medicina Limite: Humans Idioma: Da Revista: Ugeskr Laeger Ano de publicação: 2023 Tipo de documento: Article
Buscar no Google
Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Medicina Limite: Humans Idioma: Da Revista: Ugeskr Laeger Ano de publicação: 2023 Tipo de documento: Article