Multi-ancestry genome-wide association study of major depression aids locus discovery, fine map**, gene prioritization and causal inference

X Meng, G Navoly, O Giannakopoulou, DF Levey… - Nature …, 2024 - nature.com
Most genome-wide association studies (GWAS) of major depression (MD) have been
conducted in samples of European ancestry. Here we report a multi-ancestry GWAS of MD …

Strategies for the genomic analysis of admixed populations

T Tan, EG Atkinson - Annual review of biomedical data science, 2023 - annualreviews.org
Admixed populations constitute a large portion of global human genetic diversity, yet they
are often left out of genomics analyses. This exclusion is problematic, as it leads to …

The impact of sex on gene expression across human tissues

M Oliva, M Muñoz-Aguirre, S Kim-Hellmuth, V Wucher… - Science, 2020 - science.org
INTRODUCTION Many complex human phenotypes, including diseases, exhibit sex-
differentiated characteristics. These sex differences have been variously attributed to …

Association of clonal hematopoiesis with chronic obstructive pulmonary disease

PG Miller, D Qiao, J Rojas-Quintero… - Blood, The Journal …, 2022 - ashpublications.org
Chronic obstructive pulmonary disease (COPD) is associated with age and smoking, but
other determinants of the disease are incompletely understood. Clonal hematopoiesis of …

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

SJ Jurgens, SH Choi, VN Morrill, M Chaffin… - Nature …, 2022 - nature.com
Cardiometabolic diseases are the leading cause of death worldwide. Despite a known
genetic component, our understanding of these diseases remains incomplete. Here, we …

FAVOR: functional annotation of variants online resource and annotator for variation across the human genome

H Zhou, T Arapoglou, X Li, Z Li, X Zheng… - Nucleic Acids …, 2023 - academic.oup.com
Large biobank-scale whole genome sequencing (WGS) studies are rapidly identifying a
multitude of coding and non-coding variants. They provide an unprecedented resource for …

Rare coding variant analysis for human diseases across biobanks and ancestries

SJ Jurgens, X Wang, SH Choi, LC Weng, S Koyama… - Nature Genetics, 2024 - nature.com
Large-scale sequencing has enabled unparalleled opportunities to investigate the role of
rare coding variation in human phenotypic variability. Here, we present a pan-ancestry …

Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis

JS Weinstock, J Gopakumar, BB Burugula, MM Uddin… - Nature, 2023 - nature.com
Mutations in a diverse set of driver genes increase the fitness of haematopoietic stem cells
(HSCs), leading to clonal haematopoiesis. These lesions are precursors for blood cancers …

Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes

V Warrier, EM Stauffer, QQ Huang, EM Wigdor… - Nature …, 2023 - nature.com
Our understanding of the genetics of the human cerebral cortex is limited both in terms of the
diversity and the anatomical granularity of brain structural phenotypes. Here we conducted a …

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

X Li, Z Li, H Zhou, SM Gaynor, Y Liu, H Chen, R Sun… - Nature …, 2020 - nature.com
Large-scale whole-genome sequencing studies have enabled the analysis of rare variants
(RVs) associated with complex phenotypes. Commonly used RV association tests have …