The Human Pangenome Project: a global resource to map genomic diversity
The human reference genome is the most widely used resource in human genetics and is
due for a major update. Its current structure is a linear composite of merged haplotypes from …
due for a major update. Its current structure is a linear composite of merged haplotypes from …
[HTML][HTML] A scoping review of guidelines for the use of race, ethnicity, and ancestry reveals widespread consensus but also points of ongoing disagreement
M Mauro, DS Allen, B Dauda, SJ Molina… - The American Journal of …, 2022 - cell.com
The use of population descriptors such as race, ethnicity, and ancestry in science, medicine,
and public health has a long, complicated, and at times dark history, particularly for genetics …
and public health has a long, complicated, and at times dark history, particularly for genetics …
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical …
Disclaimer: This statement is designed primarily as an educational resource for medical
geneticists and other clinicians to help them provide quality medical services. Adherence to …
geneticists and other clinicians to help them provide quality medical services. Adherence to …
Genetic ancestry correlates with somatic differences in a real-world clinical cancer sequencing cohort
Accurate ancestry inference is critical for identifying genetic contributors of cancer disparities
among populations. Although methods to infer genetic ancestry have historically relied upon …
among populations. Although methods to infer genetic ancestry have historically relied upon …
[HTML][HTML] 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 …
Evolving use of ancestry, ethnicity, and race in genetics research—A survey spanning seven decades
To inform continuous and rigorous reflection about the description of human populations in
genomics research, this study investigates the historical and contemporary use of the terms" …
genomics research, this study investigates the historical and contemporary use of the terms" …
Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits
Despite the growing number of genome-wide association studies (GWASs), it remains
unclear to what extent gene-by-gene and gene-by-environment interactions influence …
unclear to what extent gene-by-gene and gene-by-environment interactions influence …
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 …
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes
Genome sequencing is enabling precision medicine—tailoring treatment to the unique
constellation of variants in an individual's genome. The impact of recurrent pathogenic …
constellation of variants in an individual's genome. The impact of recurrent pathogenic …
Implementing genomic screening in diverse populations
NS Abul-Husn, ER Soper, GT Braganza… - Genome medicine, 2021 - Springer
Background Population-based genomic screening has the predicted ability to reduce
morbidity and mortality associated with medically actionable conditions. However, much …
morbidity and mortality associated with medically actionable conditions. However, much …