The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

E Sollis, A Mosaku, A Abid, A Buniello… - Nucleic acids …, 2023 - academic.oup.com
Abstract The NHGRI-EBI GWAS Catalog (www. ebi. ac. uk/gwas) is a FAIR knowledgebase
providing detailed, structured, standardised and interoperable genome-wide association …

Opportunities and challenges for the use of common controls in sequencing studies

GL Wojcik, J Murphy, JL Edelson, CR Gignoux… - Nature Reviews …, 2022 - nature.com
Genome-wide association studies using large-scale genome and exome sequencing data
have become increasingly valuable in identifying associations between genetic variants and …

The genetic side of the mood: A scientometric review of the genetic basis of mood disorders

G Bonacina, A Carollo, G Esposito - Genes, 2023 - mdpi.com
Mood disorders are highly heritable psychiatric disorders. Over the years, many genetic
polymorphisms have been identified to pose a higher risk for the development of mood …

A multibreed genome-wide association study for cattle leukocyte telomere length

AV Igoshin, NS Yudin, GA Romashov, DM Larkin - Genes, 2023 - mdpi.com
Telomeres are terminal DNA regions of chromosomes that prevent chromosomal fusion and
degradation during cell division. In cattle, leukocyte telomere length (LTL) is associated with …

PlaqView 2.0: A comprehensive web portal for cardiovascular single-cell genomics

WF Ma, AW Turner, C Gancayco, D Wong… - Frontiers in …, 2022 - frontiersin.org
Single-cell RNA-seq (scRNA-seq) is a powerful genomics technology to interrogate the
cellular composition and behaviors of complex systems. While the number of scRNA-seq …

Workshop proceedings: GWAS summary statistics standards and sharing

JAL MacArthur, A Buniello, LW Harris, J Hayhurst… - Cell Genomics, 2021 - cell.com
Genome-wide association studies (GWASs) have enabled robust mapping of complex traits
in humans. The open sharing of GWAS summary statistics (SumStats) is essential in …

Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves

MMY Chan, O Sadeghi-Alavijeh, FM Lopes, AC Hilger… - Elife, 2022 - elifesciences.org
Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in
children, but the genetic architecture of this rare disorder remains unknown. We performed a …

Citrus genomic resources unravel putative genetic determinants of Huanglongbing pathogenicity

Y Gao, J Xu, Z Li, Y Zhang, N Riera, Z Xiong, Z Ouyang… - Iscience, 2023 - cell.com
Citrus HLB caused by Candidatus Liberibacter asiaticus is a pathogen-triggered immune
disease. Here, we identified putative genetic determinants of HLB pathogenicity by …

Toward identification of functional sequences and variants in noncoding DNA

R Monti, U Ohler - Annual Review of Biomedical Data Science, 2023 - annualreviews.org
Understanding the noncoding part of the genome, which encodes gene regulation, is
necessary to identify genetic mechanisms of disease and translate findings from genome …

Applying multi-omics techniques to the discovery of biomarkers for acute aortic dissection

X Hao, S Cheng, B Jiang, S Xin - Frontiers in Cardiovascular Medicine, 2022 - frontiersin.org
Acute aortic dissection (AAD) is a cardiovascular disease that manifests suddenly and
fatally. Due to the lack of specific early symptoms, many patients with AAD are often …