William Schierding
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View article: Germline lung cancer SNPs dysregulate known (LATS1) and novel (ADCY2) oncogenes through distal, spatially-constrained eQTLs
Germline lung cancer SNPs dysregulate known (LATS1) and novel (ADCY2) oncogenes through distal, spatially-constrained eQTLs Open
Understanding how genomic variants contribute to lung cancer (LC) risk is key to better understanding the molecular mechanisms underlying that risk. While genome-wide association studies (GWAS) have identified numerous LC risk loci, most s…
View article: Application of Machine Learning in the Diagnosis and Prognosis of Mild Traumatic Brain Injury Using Diffusion Tensor Imaging: A Systematic Review
Application of Machine Learning in the Diagnosis and Prognosis of Mild Traumatic Brain Injury Using Diffusion Tensor Imaging: A Systematic Review Open
Background Traumatic Brain Injury (TBI) is a global health concern, with mild TBI (mTBI) being the most common form. Despite its prevalence, accurately diagnosing mTBI remains a significant challenge. While advanced neuroimaging techniques…
View article: Long-term health outcomes in adolescents with obesity treated with faecal microbiota transplantation: 4-year follow-up
Long-term health outcomes in adolescents with obesity treated with faecal microbiota transplantation: 4-year follow-up Open
Faecal microbiota transplantation (FMT) has been explored as a potential treatment for obesity, but its long-term effects on metabolic health remain unclear. Here, we report 4-year follow-up findings from a double-blind, randomised, placeb…
View article: Detecting neurodegenerative changes in glaucoma using deep mean kurtosis-curve–corrected tractometry
Detecting neurodegenerative changes in glaucoma using deep mean kurtosis-curve–corrected tractometry Open
Glaucoma is increasingly recognized as a neurodegenerative condition involving both retinal and central nervous system structures. Here, we present an integrated framework that combines MK-Curve-corrected diffusion kurtosis imaging (DKI), …
View article: Application of advanced diffusion MRI based tractometry of the visual pathway in glaucoma: a systematic review
Application of advanced diffusion MRI based tractometry of the visual pathway in glaucoma: a systematic review Open
Background Glaucoma is a leading cause of blindness globally, with emerging research suggesting that glaucoma-related degeneration may affect the visual pathway. Recent advancements in magnetic resonance imaging (MRI) offer promising non-i…
View article: Complete genome sequence of <i>Escherichia marmotae</i> F12YCO47 isolated from a healthy human fecal sample
Complete genome sequence of <i>Escherichia marmotae</i> F12YCO47 isolated from a healthy human fecal sample Open
Escherichia marmotae has been found in animals and the environment. Here, we isolated it from a healthy human fecal sample. The 4.91 Mb circular genome (GC content = 50.34%) is associated with three plasmids: pF12YCO47-2 (89.9 kb, 50.2% GC…
View article: Longitudinal changes in network-based functional connectivity over a rugby season in adolescent males
Longitudinal changes in network-based functional connectivity over a rugby season in adolescent males Open
Objectives This study examined the impact of a single season of rugby union – and subsequent exposure to head acceleration events (HAEs) – on functional connectivity in adolescent males compared to non-collision sport athletes. Methods Res…
View article: Mendelian randomizations with spatial gene networks reveal shared and distinct drivers of risk in major skin cancer types
Mendelian randomizations with spatial gene networks reveal shared and distinct drivers of risk in major skin cancer types Open
Skin cancer is the most common malignancy worldwide, comprising three major types: melanoma, basal cell carcinoma (BCC), and squamous cell carcinoma (SCC). A critical goal in advancing our understanding of skin cancer is to identify the sh…
View article: How does methamphetamine affect the brain? A systematic review of magnetic resonance imaging studies
How does methamphetamine affect the brain? A systematic review of magnetic resonance imaging studies Open
Methamphetamine (METH) is an addictive psychostimulant that is associated with significant physical and psychological harm. Magnetic resonance imaging (MRI) is a non-invasive and powerful imaging modality that can reveal structural and fun…
View article: Melanoma-specific mutation hotspots in distal, non-coding, promoter-interacting regions implicate novel candidate driver genes
Melanoma-specific mutation hotspots in distal, non-coding, promoter-interacting regions implicate novel candidate driver genes Open
Background To develop targeted treatments, it is crucial to identify the full spectrum of genetic drivers in melanoma, including those in non-coding regions. However, recent efforts to explore non-coding regions have primarily focused on g…
View article: Melanoma-specific mutation hotspots in distal, non-coding, promoter-interacting regions implicate novel candidate driver genes
Melanoma-specific mutation hotspots in distal, non-coding, promoter-interacting regions implicate novel candidate driver genes Open
Investigations of the non-coding region are essential for uncovering the full spectrum of genetic drivers in melanoma. Here, we map distal, non-coding, promoter-interacting regulatory elements using Hi-C data from melanoma cells and integr…
View article: Identification of 27 allele-specific regulatory variants in Parkinson’s disease using a massively parallel reporter assay
Identification of 27 allele-specific regulatory variants in Parkinson’s disease using a massively parallel reporter assay Open
Genome wide association studies (GWAS) have identified a number of genomic loci that are associated with Parkinson’s disease (PD) risk. However, the majority of these variants lie in non-coding regions, and thus the mechanisms by which the…
View article: Links between melanoma germline risk loci, driver genes and comorbidities: insight from a tissue‐specific multi‐omic analysis
Links between melanoma germline risk loci, driver genes and comorbidities: insight from a tissue‐specific multi‐omic analysis Open
Genome‐wide association studies (GWAS) have associated 76 loci with the risk of developing melanoma. However, understanding the molecular basis of such associations has remained a challenge because most of these loci are in non‐coding regi…
View article: Fine-mapping identifies 27 allele-specific MPRA regulatory variants in Parkinson’s disease related loci
Fine-mapping identifies 27 allele-specific MPRA regulatory variants in Parkinson’s disease related loci Open
Genome wide association studies (GWAS) have identified a number of genomic loci that are associated with Parkinson’s disease (PD) risk. However, the majority of these variants lie in non-coding regions, and thus the mechanisms by which the…
View article: Spatially constrained gene regulation identifies key genetic contributions of preeclampsia, hypertension, and proteinuria
Spatially constrained gene regulation identifies key genetic contributions of preeclampsia, hypertension, and proteinuria Open
Preeclampsia (PE) is a relatively common but severe pregnancy disorder (with very limited effective treatments) characterized by hypertension (HTN) and usually proteinuria (PRO) or other organ damage. Genome-wide association studies (GWAS)…
View article: Interpretation of the role of germline and somatic non-coding mutations in cancer: expression and chromatin conformation informed analysis
Interpretation of the role of germline and somatic non-coding mutations in cancer: expression and chromatin conformation informed analysis Open
Background There has been extensive scrutiny of cancer driving mutations within the exome (especially amino acid altering mutations) as these are more likely to have a clear impact on protein functions, and thus on cell biology. However, t…
View article: Spatially Constrained Gene Regulation Identifies Key Genetic Contributions of Preeclampsia, Hypertension and Proteinuria
Spatially Constrained Gene Regulation Identifies Key Genetic Contributions of Preeclampsia, Hypertension and Proteinuria Open
Preeclampsia (PE) is a relatively common but severe pregnancy disorder that is characterized by hypertension (HTN) and either proteinuria (PRO), or other organ damage. There are very limited effective treatments for PE, and it is associate…
View article: Establishing gene regulatory networks from Parkinson’s disease risk loci
Establishing gene regulatory networks from Parkinson’s disease risk loci Open
The latest meta-analysis of genome-wide association studies identified 90 independent variants across 78 genomic regions associated with Parkinson’s disease, yet the mechanisms by which these variants influence the development of the disea…
View article: Machine Learning Identifies Six Genetic Variants and Alterations in the Heart Atrial Appendage as Key Contributors to PD Risk Predictivity
Machine Learning Identifies Six Genetic Variants and Alterations in the Heart Atrial Appendage as Key Contributors to PD Risk Predictivity Open
Parkinson’s disease (PD) is a complex neurodegenerative disease with a range of causes and clinical presentations. Over 76 genetic loci (comprising 90 SNPs) have been associated with PD by the most recent GWAS meta-analysis. Most of these …
View article: Deciphering the genetic links between NAFLD and co-occurring conditions using a liver gene regulatory network
Deciphering the genetic links between NAFLD and co-occurring conditions using a liver gene regulatory network Open
Background & Aims Non-alcoholic fatty liver disease (NAFLD) is a multi-system metabolic disease that co-occurs with various hepatic and extra-hepatic diseases. The phenotypic manifestation of NAFLD is primarily observed in the liver. There…
View article: Unravelling the Shared Genetic Mechanisms Underlying 18 Autoimmune Diseases Using a Systems Approach
Unravelling the Shared Genetic Mechanisms Underlying 18 Autoimmune Diseases Using a Systems Approach Open
Autoimmune diseases (AiDs) are complex heterogeneous diseases characterized by hyperactive immune responses against self. Genome-wide association studies have identified thousands of single nucleotide polymorphisms (SNPs) associated with s…
View article: Transcriptional Regulation of RUNX1: An Informatics Analysis
Transcriptional Regulation of RUNX1: An Informatics Analysis Open
The RUNX1/AML1 gene encodes a developmental transcription factor that is an important regulator of haematopoiesis in vertebrates. Genetic disruptions to the RUNX1 gene are frequently associated with acute myeloid leukaemia. Gene regulatory…
View article: Machine learning identifies six genetic variants and alterations in the Heart Atrial Appendage as key contributors to PD risk predictivity
Machine learning identifies six genetic variants and alterations in the Heart Atrial Appendage as key contributors to PD risk predictivity Open
Parkinson’s disease (PD) is a complex neurodegenerative disease with a range of causes and clinical presentations. Over 76 genetic loci (comprising 90 SNPs) have been associated with PD by the most recent GWAS meta-analysis. Most of these …
View article: Genetic Variation as a Long-Distance Modulator of <i>RAD21</i> Expression in Humans
Genetic Variation as a Long-Distance Modulator of <i>RAD21</i> Expression in Humans Open
Mutations and changes in expression in RAD21 are common across cancers types and outside of cancer can result in cohesinopathy. As such, exploration of variants that modify RAD21 enhancer activity, across the genome, may also provide insig…
View article: Strain engraftment competition and functional augmentation in a multi-donor fecal microbiota transplantation trial for obesity
Strain engraftment competition and functional augmentation in a multi-donor fecal microbiota transplantation trial for obesity Open
Background Donor selection is an important factor influencing the engraftment and efficacy of fecal microbiota transplantation (FMT) for complex conditions associated with microbial dysbiosis. However, the degree, variation, and stability …
View article: Establishing gene regulatory networks from Parkinson’s disease risk loci
Establishing gene regulatory networks from Parkinson’s disease risk loci Open
The latest meta-analysis of genome wide association studies (GWAS) identified 90 independent single nucleotide polymorphisms (SNPs) across 78 genomic regions associated with Parkinson’s disease (PD), yet the mechanisms by which these varia…
View article: Unravelling the shared genetic mechanisms underlying 18 autoimmune diseases using a systems approach
Unravelling the shared genetic mechanisms underlying 18 autoimmune diseases using a systems approach Open
Autoimmune diseases (AiDs) are complex heterogeneous diseases characterized by hyperactive immune responses against self. Genome-wide association studies have identified thousands of single nucleotide polymorphisms (SNPs) associated with s…