Electronic health records and polygenic risk scores for predicting disease risk
Accurate prediction of disease risk based on the genetic make-up of an individual is
essential for effective prevention and personalized treatment. Nevertheless, to date …
essential for effective prevention and personalized treatment. Nevertheless, to date …
Validity of polygenic risk scores: are we measuring what we think we are?
ACJW Janssens - Human molecular genetics, 2019 - academic.oup.com
Polygenic risk scores (PRSs) have become the standard for quantifying genetic liability in
the prediction of disease risks. PRSs are generally constructed as weighted sum scores of …
the prediction of disease risks. PRSs are generally constructed as weighted sum scores of …
Revisiting the genome-wide significance threshold for common variant GWAS
Over the last decade, GWAS meta-analyses have used a strict P-value threshold of 5× 10− 8
to classify associations as significant. Here, we use our current understanding of frequently …
to classify associations as significant. Here, we use our current understanding of frequently …
Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction
Cancer risk is determined by a complex interplay of environmental and heritable factors.
Polygenic risk scores (PRS) provide a personalized genetic susceptibility profile that may be …
Polygenic risk scores (PRS) provide a personalized genetic susceptibility profile that may be …
Disease risk scores for skin cancers
We trained and validated risk prediction models for the three major types of skin cancer—
basal cell carcinoma (BCC), squamous cell carcinoma (SCC), and melanoma—on a cross …
basal cell carcinoma (BCC), squamous cell carcinoma (SCC), and melanoma—on a cross …
Cancer PRSweb: an online repository with polygenic risk scores for major cancer traits and their evaluation in two independent biobanks
To facilitate scientific collaboration on polygenic risk scores (PRSs) research, we created an
extensive PRS online repository for 35 common cancer traits integrating freely available …
extensive PRS online repository for 35 common cancer traits integrating freely available …
Accurate and scalable construction of polygenic scores in large biobank data sets
Accurate construction of polygenic scores (PGS) can enable early diagnosis of diseases and
facilitate the development of personalized medicine. Accurate PGS construction requires …
facilitate the development of personalized medicine. Accurate PGS construction requires …
Statistical genetics and polygenic risk score for precision medicine
T Konuma, Y Okada - Inflammation and regeneration, 2021 - Springer
The prediction of disease risks is an essential part of personalized medicine, which includes
early disease detection, prevention, and intervention. The polygenic risk score (PRS) has …
early disease detection, prevention, and intervention. The polygenic risk score (PRS) has …
Constructing germline research cohorts from the discarded reads of clinical tumor sequences
Background Hundreds of thousands of cancer patients have had targeted (panel) tumor
sequencing to identify clinically meaningful mutations. In addition to improving patient …
sequencing to identify clinically meaningful mutations. In addition to improving patient …
Polygenic risk and chemotherapy-related subsequent malignancies in childhood cancer survivors: a Childhood Cancer Survivor Study and St Jude Lifetime Cohort …
C Im, N Sharafeldin, Y Yuan, Z Wang… - Journal of Clinical …, 2023 - ascopubs.org
PURPOSE Chemotherapeutic exposures are associated with subsequent malignant
neoplasm (SMN) risk. The role of genetic susceptibility in chemotherapy-related SMNs …
neoplasm (SMN) risk. The role of genetic susceptibility in chemotherapy-related SMNs …