Implementation of Risk-Stratified Breast Cancer Prevention With a Polygenic Risk Score Test in Clinical Practice

P Padrik, M Puustusmaa, N Tõnisson… - … Cancer: Basic and …, 2023 - journals.sagepub.com
Background: Breast cancer (BC) screening with mammography reduces mortality but
considers currently only age as a risk factor. Personalized risk-based screening has been …

sEHR-CE: Language modelling of structured EHR data for efficient and generalizable patient cohort expansion

A Munoz-Farre, H Rose, SA Cakiroglu - arXiv preprint arXiv:2211.17121, 2022 - arxiv.org
Electronic health records (EHR) offer unprecedented opportunities for in-depth clinical
phenotyping and prediction of clinical outcomes. Combining multiple data sources is crucial …

[HTML][HTML] Embryo screening for polygenic disease risk: Recent advances and ethical considerations

LCAM Tellier, J Eccles, NR Treff, L Lello, S Fishel… - Genes, 2021 - mdpi.com
Machine learning methods applied to large genomic datasets (such as those used in GWAS)
have led to the creation of polygenic risk scores (PRSs) that can be used identify individuals …

On the origin of schizophrenia: Testing evolutionary theories in the post‐genomic era

MJ Nesic, B Stojkovic, NP Maric - Psychiatry and clinical …, 2019 - Wiley Online Library
Considering the relatively high heritability of schizophrenia and the fact that it significantly
reduces the reproductive fitness of affected individuals, it is not clear how the disorder is still …

[HTML][HTML] Response to therapeutic sleep deprivation: a naturalistic study of clinical and genetic factors and post-treatment depressive symptom trajectory

N Trautmann, JC Foo, J Frank, SH Witt… - …, 2018 - nature.com
Research has shown that therapeutic sleep deprivation (SD) has rapid antidepressant
effects in the majority of depressed patients. Investigation of factors preceding and …

[HTML][HTML] Cannabis Use in People With Obsessive-Compulsive Symptomatology: Results From a Mexican Epidemiological Sample

H Nicolini, JJ Martínez-Magaña… - Frontiers in …, 2021 - frontiersin.org
Recent studies suggest that the endocannabinoid system could play an important role in the
physiopathology of obsessive-compulsive disorder (OCD). There are reports of effective …

Genome-wide polygenic risk scores for hypertensive disease during pregnancy can also predict the risk for long-term cardiovascular disease

SM Lee, M Shivakumar, B Xiao, SH Jung, Y Nam… - American Journal of …, 2023 - Elsevier
Background Hypertensive disorders during pregnancy are associated with the risk of long-
term cardiovascular disease after pregnancy, but it has not yet been determined whether …

[HTML][HTML] Enhanced polygenic risk score incorporating gene–environment interaction suggests the association of major depressive disorder with cardiac and lung …

C Pan, B Cheng, X Qin, S Cheng, L Liu… - Briefings in …, 2024 - academic.oup.com
Background Depression has been linked to an increased risk of cardiovascular and
respiratory diseases; however, its impact on cardiac and lung function remains unclear …

Association of clinical parameters and polygenic risk scores for body mass index, schizophrenia, and diabetes with antipsychotic-induced weight gain

M Franz, S Papiol, MS Simon, BB Barton… - Journal of Psychiatric …, 2024 - Elsevier
Antipsychotic-induced weight gain (AIWG) is a common adverse event in schizophrenia.
Genome-wide association studies (GWAS) and polygenic risk scores (PRS) for other …

Ethical issues in susceptibility genetic testing for late‐onset neurodegenerative diseases

A Manrique de Lara, L Soto‐Gómez… - American Journal of …, 2019 - Wiley Online Library
Genome‐wide association studies have revolutionized our understanding of the genetic
architecture of complex traits and diseases over the last decade. This knowledge is enabling …