[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 …

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

U Võsa, A Claringbould, HJ Westra, MJ Bonder… - Nature …, 2021 - nature.com
Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …

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 …

[HTML][HTML] Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis

SP Kar, PM Quiros, M Gu, T Jiang, J Mitchell… - Nature Genetics, 2022 - nature.com
Clonal hematopoiesis (CH), the clonal expansion of a blood stem cell and its progeny driven
by somatic driver mutations, affects over a third of people, yet remains poorly understood …

[HTML][HTML] Plasma proteomic associations with genetics and health in the UK Biobank

BB Sun, J Chiou, M Traylor, C Benner, YH Hsu… - Nature, 2023 - nature.com
Abstract The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium
characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. Here we …

[PDF][PDF] Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

MH Chen, LM Raffield, A Mousas, S Sakaue… - Cell, 2020 - cell.com
Most loci identified by GWASs have been found in populations of European ancestry (EUR).
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …

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 …

GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background

N Sinnott-Armstrong, S Naqvi, M Rivas, JK Pritchard - Elife, 2021 - elifesciences.org
Genome-wide association studies (GWAS) have been used to study the genetic basis of a
wide variety of complex diseases and other traits. We describe UK Biobank GWAS results for …