[HTML][HTML] The promise of digital healthcare technologies
Digital health technologies have been in use for many years in a wide spectrum of
healthcare scenarios. This narrative review outlines the current use and the future strategies …
healthcare scenarios. This narrative review outlines the current use and the future strategies …
[HTML][HTML] Polygenic scoring accuracy varies across the genetic ancestry continuum
Polygenic scores (PGSs) have limited portability across different groupings of individuals (for
example, by genetic ancestries and/or social determinants of health), preventing their …
example, by genetic ancestries and/or social determinants of health), preventing their …
[HTML][HTML] Germline Mutations in CIDEB and Protection against Liver Disease
Background Exome sequencing in hundreds of thousands of persons may enable the
identification of rare protein-coding genetic variants associated with protection from human …
identification of rare protein-coding genetic variants associated with protection from human …
Genome-wide polygenic score to predict chronic kidney disease across ancestries
Chronic kidney disease (CKD) is a common complex condition associated with high
morbidity and mortality. Polygenic prediction could enhance CKD screening and prevention; …
morbidity and mortality. Polygenic prediction could enhance CKD screening and prevention; …
Polygenic risk scores for predicting outcomes and treatment response in psychiatry: hope or hype?
Over the last years, the decreased costs and enhanced accessibility to large genome-wide
association studies datasets have laid the foundations for the development of polygenic risk …
association studies datasets have laid the foundations for the development of polygenic risk …
Getting genetic ancestry right for science and society
Glaring health disparities have reinvigorated debate about the relevance of race to health,
including how race should and should not be used as a variable in research and …
including how race should and should not be used as a variable in research and …
[HTML][HTML] Mono-and biallelic variant effects on disease at biobank scale
Identifying causal factors for Mendelian and common diseases is an ongoing challenge in
medical genetics. Population bottleneck events, such as those that occurred in the history of …
medical genetics. Population bottleneck events, such as those that occurred in the history of …
Including multiracial individuals is crucial for race, ethnicity and ancestry frameworks in genetics and genomics
Current ontologies of race, ethnicity and genetic ancestry rely on categorization, but have
limitations—as exemplified by multiracial individuals. We argue that including these …
limitations—as exemplified by multiracial individuals. We argue that including these …
[HTML][HTML] Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes
Body fat distribution is a major, heritable risk factor for cardiometabolic disease, independent
of overall adiposity. Using exome-sequencing in 618,375 individuals (including 160,058 non …
of overall adiposity. Using exome-sequencing in 618,375 individuals (including 160,058 non …
[PDF][PDF] Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: Experiences from the NHLBI TOPMed program
How race, ethnicity, and ancestry are used in genomic research has wide-ranging
implications for how research is translated into clinical care and incorporated into public …
implications for how research is translated into clinical care and incorporated into public …