The Human Pangenome Project: a global resource to map genomic diversity

T Wang, L Antonacci-Fulton, K Howe, HA Lawson… - Nature, 2022 - nature.com
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 …

[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 …

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical …

DT Miller, K Lee, AS Gordon, LM Amendola… - Genetics in …, 2021 - nature.com
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 …

Genetic ancestry correlates with somatic differences in a real-world clinical cancer sequencing cohort

K Arora, TN Tran, Y Kemel, M Mehine, YL Liu… - Cancer discovery, 2022 - AACR
Accurate ancestry inference is critical for identifying genetic contributors of cancer disparities
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

AT Khan, SM Gogarten, CP McHugh, AM Stilp, T Sofer… - Cell genomics, 2022 - cell.com
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 …

Evolving use of ancestry, ethnicity, and race in genetics research—A survey spanning seven decades

YJJ Byeon, R Islamaj, L Yeganova, WJ Wilbur… - The American Journal of …, 2021 - cell.com
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" …

Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits

RA Patel, SA Musharoff, JP Spence, H Pimentel… - The American Journal of …, 2022 - cell.com
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 …

Including multiracial individuals is crucial for race, ethnicity and ancestry frameworks in genetics and genomics

DO Martschenko, H Wand, JL Young, GL Wojcik - Nature genetics, 2023 - nature.com
Current ontologies of race, ethnicity and genetic ancestry rely on categorization, but have
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

G McInnes, AG Sharo, ML Koleske, JEH Brown… - The American Journal of …, 2021 - cell.com
Genome sequencing is enabling precision medicine—tailoring treatment to the unique
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 …