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Fine map** of candidate effector genes for heart rate
An elevated resting heart rate (RHR) is associated with increased cardiovascular mortality. Genome-wide association studies (GWAS) have...
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A graph centrality-based approach for candidate gene prediction for type 1 diabetes
Type 1 diabetes mellitus (T1DM) or insulin-dependent diabetes is an autoimmune disease that may pose life-threatening situations to individuals. In...
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Analysis of strain, sex, and diet-dependent modulation of gut microbiota reveals candidate keystone organisms driving microbial diversity in response to American and ketogenic diets
BackgroundThe gut microbiota is modulated by a combination of diet, host genetics, and sex effects. The magnitude of these effects and interactions...
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A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene
BackgroundFamilial ovarian cancer (OC) cases not harbouring pathogenic variants in either of the BRCA1 and BRCA2 OC-predisposing genes, which...
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Co-expression in tissue-specific gene networks links genes in cancer-susceptibility loci to known somatic driver genes
BackgroundThe genetic background of cancer remains complex and challenging to integrate. Many somatic mutations within genes are known to cause and...
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Structural analysis of PpSP15 and PsSP9 sand fly salivary proteins designed with a self-cleavable linker as a live vaccine candidate against cutaneous leishmaniasis
BackgroundLeishmania parasites are deposited in the host through sand fly bites along with sand fly saliva. Therefore, salivary proteins are...
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Gene Editing and Transgenic Reporter Assays in African Killifish
As an emerging genetic model, the short-lived African killifish Nothobranchius furzeri has displayed unique advantages for vertebrate aging and...
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A candidate antibody drug for prevention of malaria
Over 75% of malaria-attributable deaths occur in children under the age of 5 years. However, the first malaria vaccine recommended by the World...
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Gene Expression Profiling and Bioinformatics Analysis in Neurodegenerative Diseases
The integration of experimental and clinical information is important for understanding complex biological systems and addressing medical issues....
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The squiggle tail (squig) mutation in mice is associated with a deletion in the mesenchyme homeobox 1 (Meox1) gene
ObjectiveWe have taken a positional approach to assign the spontaneous squiggle tail ( squig ) mutation in mice to a specific gene defect.
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Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene
Sequencing exomes/genomes have been successful for identifying recessive genes; however, discovery of dominant genes including deafness genes (DFNA)...
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Mobile element variation contributes to population-specific genome diversification, gene regulation and disease risk
Mobile genetic elements (MEs) are heritable mutagens that recursively generate structural variants (SVs). ME variants (MEVs) are difficult to...
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Sequence determinants of human gene regulatory elements
DNA can determine where and when genes are expressed, but the full set of sequence determinants that control gene expression is unknown. Here, we...
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Sex-biased gene and microRNA expression in the develo** mouse brain is associated with neurodevelopmental functions and neurological phenotypes
BackgroundSex differences pose a challenge and an opportunity in biomedical research. Understanding how sex chromosomes and hormones affect...
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Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia
The importance of epigenetic control in the development of the central nervous system has recently been attracting attention. Methylation patterns of...
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Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association
The application of next-generation sequencing (NGS) to clinical practice is still hampered by the ability to interpret the clinical relevance of...
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Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome
PurposeMayer–Rokitansky–Küster–Hauser (MRKH) syndrome consists of congenital absence of the uterus and vagina and is often associated with renal,...
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Impact of vitamin C supplementation on placental DNA methylation changes related to maternal smoking: association with gene expression and respiratory outcomes
BackgroundMaternal smoking during pregnancy (MSDP) affects development of multiple organ systems including the placenta, lung, brain, and...
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Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
BackgroundLong-read whole genome sequencing (lrWGS) has the potential to address the technical limitations of exome sequencing in ways not possible...
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In-silico functional and molecular phenotypic analysis of NFKBIE (V194A), and PADI4 (G55S, V82A,G112A) gene mutations in rheumatoid arthritis
Rheumatoid arthritis (RA) is a chronic autoimmune inflammatory disorder of the joints, influenced by various factors such as age, sex, smoking,...
