Kristel Sleegers

Targeted single-nucleus sequencing of 39,800 neurons reveals extensive low-frequency somatic variants

The paper analyzes somatic mutations in neurons from FTLD-TDP type C patients and controls, finding extensive low-frequency variants in TARDBP and other genes.

Genomics link obesity and type 2 diabetes to Alzheimers disease to unveil novel biological insights

This study links obesity and type 2 diabetes to Alzheimer's disease through genetic and transcriptomic analyses, identifying shared pathways and potential drug targets.

inquiSTR: a toolkit for accurate and efficient population-scale tandem repeat genotyping and analysis

inqiSTR is a toolkit for efficient and accurate tandem repeat genotyping from long-read sequencing data, enabling population-scale analysis and downstream applications.

Alzheimer's disease and its co-pathologies: implications for hippocampal degeneration, cognitive decline, and the role of APOE ϵ4

This study examines the interactions between A{beta}, tau, LATE-NC, -synuclein, and APOE {varepsilon}4 in 480 post-mortem brains, finding that tau is the strongest predictor of neurodegeneration while LATE-NC primarily affects hippocampal neuron loss.

Characterising tandem repeat complexities across long-read sequencing platforms with TREAT and otter

The paper introduces otter and TREAT for accurate tandem repeat genotyping across long-read sequencing platforms, showing improved accuracy and identifying pathogenic expansions and disease associations.

Exome analysis of 22,319 individuals links extremely rare CNVs and 22q11.21 dosage to Alzheimer's risk

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

Scywalker: scalable end-to-end data analysis workflow for nanopore single-cell transcriptome sequencing

Scywalker provides a scalable analysis pipeline for nanopore single-cell transcriptome data, showing good correlation with short-read analyses and enabling isoform-level cell-type-specific expression identification.

Genome-wide association study of Alzheimer's disease brain imaging biomarkers and neuropsychological phenotypes in the EMIF-AD Multimodal Biomarker Discovery dataset

This study performs GWAS on quantitative AD biomarkers and cognitive traits, identifying new loci associated with memory performance and cognitive decline.

TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer's disease biomarker levels

The paper conducts GWAS on CSF Alzheimer's disease biomarkers, identifying genetic associations with NF-L, YKL-40, and Ng levels.

Genome-wide association study of Alzheimer’s disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset

The paper conducts a genome-wide association study (GWAS) on Alzheimer’s disease CSF biomarkers in the EMIF-AD dataset, identifying novel genetic signals and confirming existing associations.

IPSC-derived neuronal cultures expressing the Alzheimer’s disease associated rare TREM2 R47H variant enables the construction of an Aβ-induced gene regulatory network

This study uses iPSC-derived neuronal cultures with the TREM2 R47H variant to construct an Aβ-induced gene regulatory network, identifying ER-stress as a potential causal factor in LOAD.

Accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION.

This paper develops a method to accurately characterize expanded tandem repeats using long-read sequencing on PromethION, outperforming traditional methods and enabling clinical applications.

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

The paper benchmarks structural variant calling tools using Oxford Nanopore PromethION sequencing of the human genome, finding Minimap2 and Sniffles to be the most accurate and efficient.

Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

This study performs a large GWAS of Alzheimer's disease, identifies four new risk loci, and highlights pathways involving immunity, lipid metabolism, and APP/Aβ processing.