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Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing...
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A possible role of lncRNA MEG3 and lncRNA MAFG-AS1 on miRNA 147-b in the pathogenesis of Behcet’s disease
Behcet’s disease (BD) is a multisystem disease with altered Toll-like receptors (TLRs) on macrophages. Long noncoding RNA Maternally expressed gene 3...
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The obesity-related mutation gene on nonalcoholic fatty liver disease
The prevalence of overweight and obesity is increasing, leading to metabolic-associated fatty liver disease (MAFLD) characterized by excessive...
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Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes
Age at diagnosis (AAD) of Type 1 diabetes (T1D) is determined by the age at onset of the autoimmune attack and by the rate of beta cell destruction...
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Creation and validation of the first infinium DNA methylation array for the human imprintome
BackgroundDifferentially methylated imprint control regions (ICRs) regulate the monoallelic expression of imprinted genes. Their epigenetic...
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Ethnic-specific genetic susceptibility loci for endometriosis in Taiwanese-Han population: a genome-wide association study
Endometriosis is a common gynecological disorder affecting around 10% of reproductive-age women. Although many hypotheses were proposed, genetic...
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Decoding protein–RNA interactions using CLIP-based methodologies
Protein–RNA interactions are central to all RNA processing events, with pivotal roles in the regulation of gene expression and cellular functions....
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Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import
Organisms maintain metabolic homeostasis through the combined functions of small-molecule transporters and enzymes. While many metabolic components...
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Establishing African genomics and bioinformatics programs through annual regional workshops
The African BioGenome Project (AfricaBP) Open Institute for Genomics and Bioinformatics aims to overcome barriers to capacity building through its...
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Effects of improved on-farm crop storage on DNA methylation of mothers and their infants: evidence from a randomized controlled trial in Kenya
BackgroundStress during pregnancy can lead to adverse maternal and infant health outcomes through epigenetic changes in the...
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Unsupervised representation learning on high-dimensional clinical data improves genomic discovery and prediction
Although high-dimensional clinical data (HDCD) are increasingly available in biobank-scale datasets, their use for genetic discovery remains...
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The potential and translational application of infant genetic research
In the current genomic revolution, the infancy life stage is the most neglected. Although clinical genetics recognizes the value of early...
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“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy
This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary amyloid transthyretin...
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Telomere-to-telomere Citrullus super-pangenome provides direction for watermelon breeding
To decipher the genetic diversity within the cucurbit genus Citrullus , we generated telomere-to-telomere (T2T) assemblies of 27 distinct genotypes,...
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Bayesian estimation of gene constraint from an evolutionary model with gene features
Measures of selective constraint on genes have been used for many applications, including clinical interpretation of rare coding variants, disease...
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DNA methylation profile of inflammatory breast cancer and its impact on prognosis and outcome
BackgroundInflammatory breast cancer (IBC) is a rare disease characterized by rapid progression, early metastasis, and a high mortality rate.
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