[HTML][HTML] Whole genome sequencing of mouse lines divergently selected for fatness (FLI) and leanness (FHI) revealed several genetic variants as candidates for novel …

M Šimon, Š Mikec, SS Atanur, J Konc, NM Morton… - Genes & genomics, 2024 - Springer
Background Analysing genomes of animal model organisms is widely used for
understanding the genetic basis of complex traits and diseases, such as obesity, for which …

[HTML][HTML] Rare and undiagnosed diseases: from disease-causing gene identification to mechanism elucidation

G Wang, Y Xu, Q Wang, Y Chai, X Sun, F Yang… - Fundamental …, 2022 - Elsevier
Rare and undiagnosed diseases substantially decrease patient quality of life and have
increasingly become a heavy burden on healthcare systems. Because of the challenges in …

[HTML][HTML] Identification of genetic associations and functional SNPs of bovine KLF6 gene on milk production traits in Chinese holstein

Y Liu, B Han, W Zheng, P Peng, C Yang, G Jiang… - BMC Genomic …, 2023 - Springer
Background Our previous research identified the Kruppel like factor 6 (KLF6) gene as a
prospective candidate for milk production traits in dairy cattle. The expression of KLF6 in the …

Rare variants in SLC34A3 explain missing heritability of urinary stone disease

O Sadeghi-Alavijeh, MMY Chan, S Moochhala… - medRxiv, 2022 - medrxiv.org
Urinary stone disease (USD) is a major health burden affecting> 10% of the UK population
at some time. While stone disease is strongly associated with lifestyle, genetic factors also …

Association of clonal haematopoiesis with severe postoperative complications in patients undergoing radical oesophagectomy

H Wang, H Yan, W Chen, H Tang, Y Pei, Q Shan… - British Journal of …, 2024 - Elsevier
Background Clonal haematopoiesis (CH) is an age-associated clonal expansion of blood
cells driven by leukaemia-associated somatic mutations. Although CH has been reported to …

Assessment of the Impact of Preanalytical DNA Integrity on the Genome Data Quality

SM Shim, M Lee, JP Jeon - Biopreservation and Biobanking, 2024 - liebertpub.com
Many molecular approaches have been employed for the quality control (QC) of biobanked
DNA samples. Since 2003, the National Biobank of Korea (NBK) has provided various …

[HTML][HTML] Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization

SM Willems, NHJ Ng, J Fernandez… - Wellcome Open …, 2023 - wellcomeopenresearch.org
Background Genome-wide association studies for glycemic traits have identified hundreds
of loci associated with these biomarkers of glucose homeostasis. Despite this success, the …

Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity

TH Heng, K Walter, QQ Huang, J Karjalainen, MJ Daly… - medRxiv, 2024 - medrxiv.org
Genetic association studies have focused on testing additive models in cohorts with
European ancestry. Little is known about recessive effects on common diseases, specifically …

Genomic and proteomic evidence for hormonal and metabolic foundations of polycystic ovary syndrome

LME Moolhuijsen, J Zhu, BH Mullin, N Pujol-Gualdo… - medRxiv, 2024 - medrxiv.org
Polycystic ovary syndrome (PCOS) and its underlying features remain poorly understood. In
this genetic and proteomic study, we expand the number of genetic loci from 19 to 29, and …

Latest trends in nucleic acids' engineering techniques applied to precision medicine

GC Pereira - Gene, Drug, and Tissue Engineering, 2022 - Springer
Nucleic acids are paving the way for advanced therapeutics. Unveiling the genome enabled
a better understanding of unique genotype–phenotype profiling. Methods for engineering …