[HTML][HTML] Human immune diversity: from evolution to modernity

A Liston, S Humblet-Baron, D Duffy, A Goris - Nature immunology, 2021 - nature.com
The extreme diversity of the human immune system, forged and maintained throughout
evolutionary history, provides a potent defense against opportunistic pathogens. At the same …

[HTML][HTML] Unraveling hematopoiesis through the lens of genomics

LA Liggett, VG Sankaran - Cell, 2020 - cell.com
Hematopoiesis has long served as a paradigm of stem cell biology and tissue homeostasis.
In the past decade, the genomics revolution has ushered in powerful new methods for …

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

A Mahajan, CN Spracklen, W Zhang, MCY Ng… - Nature …, 2022 - nature.com
We assembled an ancestrally diverse collection of genome-wide association studies
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …

[HTML][HTML] Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics

KA Jagadeesh, KK Dey, DT Montoro, R Mohan… - Nature …, 2022 - nature.com
Genome-wide association studies provide a powerful means of identifying loci and genes
contributing to disease, but in many cases, the related cell types/states through which genes …

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 …

Single-cell eQTL mapping identifies cell type–specific genetic control of autoimmune disease

S Yazar, J Alquicira-Hernandez, K Wing, A Senabouth… - Science, 2022 - science.org
The human immune system displays substantial variation between individuals, leading to
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …

Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function

JS Hawe, R Wilson, KT Schmid, L Zhou… - Nature …, 2022 - nature.com
We determined the relationships between DNA sequence variation and DNA methylation
using blood samples from 3,799 Europeans and 3,195 South Asians. We identify …

Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer

J Byun, Y Han, Y Li, J Xia, E Long, J Choi, X Xiao… - Nature …, 2022 - nature.com
To identify new susceptibility loci to lung cancer among diverse populations, we performed
cross-ancestry genome-wide association studies in European, East Asian and African …

Leveraging base-pair mammalian constraint to understand genetic variation and human disease

PF Sullivan, JRS Meadows, S Gazal, BDN Phan, X Li… - Science, 2023 - science.org
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …

Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis

K Ishigaki, S Sakaue, C Terao, Y Luo, K Sonehara… - Nature …, 2022 - nature.com
Rheumatoid arthritis (RA) is a highly heritable complex disease with unknown etiology. Multi-
ancestry genetic research of RA promises to improve power to detect genetic signals, fine …