New insights into the genetic etiology of Alzheimer's disease and related dementias

C Bellenguez, F Küçükali, IE Jansen, L Kleineidam… - Nature …, 2022 - nature.com
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …

Stroke genetics informs drug discovery and risk prediction across ancestries

A Mishra, R Malik, T Hachiya, T Jürgenson, S Namba… - Nature, 2022 - nature.com
Previous genome-wide association studies (GWASs) of stroke—the second leading cause of
death worldwide—were conducted predominantly in populations of European ancestry …

Graph pangenome captures missing heritability and empowers tomato breeding

Y Zhou, Z Zhang, Z Bao, H Li, Y Lyu, Y Zan, Y Wu… - Nature, 2022 - nature.com
Missing heritability in genome-wide association studies defines a major problem in genetic
analyses of complex biological traits,. The solution to this problem is to identify all causal …

webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association study

C Cao, J Wang, D Kwok, F Cui, Z Zhang… - Nucleic acids …, 2022 - academic.oup.com
The development of transcriptome-wide association studies (TWAS) has enabled
researchers to better identify and interpret causal genes in many diseases. However, there …

[PDF][PDF] Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

W Zhou, M Kanai, KHH Wu, H Rasheed, K Tsuo… - Cell Genomics, 2022 - cell.com
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …

Genetic control of RNA splicing and its distinct role in complex trait variation

T Qi, Y Wu, H Fang, F Zhang, S Liu, J Zeng, J Yang - Nature genetics, 2022 - nature.com
Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …

[HTML][HTML] Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles

H Hautakangas, BS Winsvold, SE Ruotsalainen… - Nature …, 2022 - nature.com
Migraine affects over a billion individuals worldwide but its genetic underpinning remains
largely unknown. Here, we performed a genome-wide association study of 102,084 …

Multi-ancestry eQTL meta-analysis of human brain identifies candidate causal variants for brain-related traits

B Zeng, J Bendl, R Kosoy, JF Fullard, GE Hoffman… - Nature …, 2022 - nature.com
While large-scale, genome-wide association studies (GWAS) have identified hundreds of
loci associated with brain-related traits, identification of the variants, genes and molecular …

Population-level variation in enhancer expression identifies disease mechanisms in the human brain

P Dong, GE Hoffman, P Apontes, J Bendl, S Rahman… - Nature …, 2022 - nature.com
Identification of risk variants for neuropsychiatric diseases within enhancers underscores the
importance of understanding population-level variation in enhancer function in the human …

Placental genomics mediates genetic associations with complex health traits and disease

A Bhattacharya, AN Freedman, V Avula… - Nature …, 2022 - nature.com
As the master regulator in utero, the placenta is core to the Developmental Origins of Health
and Disease (DOHaD) hypothesis but is historically understudied. To identify placental gene …