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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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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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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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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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FOXM1 c.1205 C > A mutation is associated with unilateral Moyamoya disease and inhibits angiogenesis in human brain endothelial cells
Unilateral moyamoya disease (MMD) represents a distinct subtype characterised by occlusive changes in the circle of Willis and abnormal vascular...
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A systematic review on the contribution of DNA methylation to hearing loss
BackgroundDNA methylation may have a regulatory role in monogenic sensorineural hearing loss and complex, polygenic phenotypic forms of hearing loss,...
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Saturation genome editing maps the functional spectrum of pathogenic VHL alleles
To maximize the impact of precision medicine approaches, it is critical to identify genetic variants underlying disease and to accurately quantify...
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Saturation genome editing of BAP1 functionally classifies somatic and germline variants
Many variants that we inherit from our parents or acquire de novo or somatically are rare, limiting the precision with which we can associate them...
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Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International
Rare diseases are recognized as a global public health priority. A timely and accurate diagnosis is a critical enabler for precise and personalized...
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Diagnosis of pediatric central nervous system tumors using methylation profiling of cfDNA from cerebrospinal fluid
Pediatric central nervous system tumors remain challenging to diagnose. Imaging approaches do not provide sufficient detail to discriminate between...
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The chromatin accessibility and transcriptomic landscape of the aging mice cochlea and the identification of potential functional super-enhancers in age-related hearing loss
BackgroundPresbycusis, also referred to as age-related hearing loss (ARHL), is a condition that results from the cumulative effects of aging on an...
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