Deciphering breast cancer: from biology to the clinic
Breast cancer remains a leading cause of cancer-related mortality in women, reflecting
profound disease heterogeneity, metastasis, and therapeutic resistance. Over the last …
profound disease heterogeneity, metastasis, and therapeutic resistance. Over the last …
Principles and methods for transferring polygenic risk scores across global populations
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …
or disease and may become a valuable tool for advancing precision medicine. However …
Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps
Nature medicine, 2021 - nature.com
Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human
genome to estimate the risk of a disease or disease-related trait for an individual. The …
genome to estimate the risk of a disease or disease-related trait for an individual. The …
A new method for multiancestry polygenic prediction improves performance across diverse populations
Polygenic risk scores (PRSs) increasingly predict complex traits; however, suboptimal
performance in non-European populations raise concerns about clinical applications and …
performance in non-European populations raise concerns about clinical applications and …
Improving polygenic prediction in ancestrally diverse populations
Polygenic risk scores (PRS) have attenuated cross-population predictive performance. As
existing genome-wide association studies (GWAS) have been conducted predominantly in …
existing genome-wide association studies (GWAS) have been conducted predominantly in …
Key steps for effective breast cancer prevention
Despite decades of laboratory, epidemiological and clinical research, breast cancer
incidence continues to rise. Breast cancer remains the leading cancer-related cause of …
incidence continues to rise. Breast cancer remains the leading cancer-related cause of …
Development of a clinical polygenic risk score assay and reporting workflow
Implementation of polygenic risk scores (PRS) may improve disease prevention and
management but poses several challenges: the construction of clinically valid assays …
management but poses several challenges: the construction of clinically valid assays …
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
Genetic variation can predispose to disease both through (i) monogenic risk variants that
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …
Advancing the use of genome-wide association studies for drug repurposing
Genome-wide association studies (GWAS) have revealed important biological insights into
complex diseases, which are broadly expected to lead to the identification of new drug …
complex diseases, which are broadly expected to lead to the identification of new drug …
Polygenic risk scores: from research tools to clinical instruments
Genome-wide association studies have shown unequivocally that common complex
disorders have a polygenic genetic architecture and have enabled researchers to identify …
disorders have a polygenic genetic architecture and have enabled researchers to identify …