A roadmap to increase diversity in genomic studies

S Fatumo, T Chikowore, A Choudhury, M Ayub… - Nature medicine, 2022 - nature.com
Two decades ago, the sequence of the first human genome was published. Since then,
advances in genome technologies have resulted in whole-genome sequencing and …

[HTML][HTML] The genetics of obesity: from discovery to biology

RJF Loos, GSH Yeo - Nature Reviews Genetics, 2022 - nature.com
The prevalence of obesity has tripled over the past four decades, imposing an enormous
burden on people's health. Polygenic (or common) obesity and rare, severe, early-onset …

The trans-ancestral genomic architecture of glycemic traits

J Chen, CN Spracklen, G Marenne, A Varshney… - Nature …, 2021 - nature.com
Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic
health. To date, most genetic studies of glycemic traits have focused on individuals of …

[HTML][HTML] The road ahead in genetics and genomics

AL McGuire, S Gabriel, SA Tishkoff, A Wonkam… - Nature Reviews …, 2020 - nature.com
In celebration of the 20th anniversary of Nature Reviews Genetics, we asked 12 leading
researchers to reflect on the key challenges and opportunities faced by the field of genetics …

[HTML][HTML] Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

K Suzuki, K Hatzikotoulas, L Southam, HJ Taylor, X Yin… - Nature, 2024 - nature.com
Abstract Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse
pathophysiological processes, and molecular mechanisms that are often specific to cell …

Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores

O Weissbrod, M Kanai, H Shi, S Gazal, WJ Peyrot… - Nature Genetics, 2022 - nature.com
Polygenic risk scores suffer reduced accuracy in non-European populations, exacerbating
health disparities. We propose PolyPred, a method that improves cross-population …

Whole-genome sequencing reveals a complex African population demographic history and signatures of local adaptation

S Fan, JP Spence, Y Feng, MEB Hansen, J Terhorst… - Cell, 2023 - cell.com
We conduct high coverage (> 30×) whole-genome sequencing of 180 individuals from 12
indigenous African populations. We identify millions of unreported variants, many predicted …

African genetic diversity and adaptation inform a precision medicine agenda

L Pereira, L Mutesa, P Tindana, M Ramsay - Nature Reviews Genetics, 2021 - nature.com
The deep evolutionary history of African populations, since the emergence of modern
humans more than 300,000 years ago, has resulted in high genetic diversity and …

A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants

J Choi, S Kim, J Kim, HY Son, SK Yoo, CU Kim… - Science …, 2023 - science.org
Underrepresentation of non-European (EUR) populations hinders growth of global precision
medicine. Resources such as imputation reference panels that match the study population …

The genetic structure of the Turkish population reveals high levels of variation and admixture

ME Kars, AN Başak, OE Onat… - Proceedings of the …, 2021 - National Acad Sciences
The construction of population-based variomes has contributed substantially to our
understanding of the genetic basis of human inherited disease. Here, we investigated the …