Resource Centre
Publication 
Functional and epigenomic consequences of DNMT1 variants in inherited neurological disorders
Publication 
Long-read genome sequencing enhances diagnostics of paediatric neurological disorders
Publication 
Single-cell long-read whole-genome sequencing reveals somatic transposon activity in human brain
Video Revealing hidden genomic variation in Parkinson’s disease
Video 
cfDNA methylation sequencing: a precision tool for early detection of neurodegenerative disorders
Publication 
Long-read genome sequencing and multi-omics in ageing and neurodegeneration
Publication 
Circulating cell-free DNA methylation profiles enable disease-specific detection of Alzheimer's, Parkinson's, and ALS from blood
Publication 
Long-read epigenetic clocks identify improved brain ageing predictions
Publication 
How ‘Sturgeon’ guides the surgeon
Publication 
A single-cell, long-read, isoform-resolved case-control study of FTD reveals cell-type-specific and broad splicing dysregulation in human brain
Publication 
A spatial long-read approach at near-single-cell resolution reveals developmental regulation of splicing and polyadenylation sites
Publication Haplotype-resolved DNA methylation at the APOE locus identifies allele-specific epigenetic signatures relevant to Alzheimer's disease risk
Publication 
Screening of hidden pathogenic structural variants in PRKN
Publication 
Cell-specific RNA isoform remodelling in the ageing mouse brain
Publication 
GIPC1 intermediate-length repeat expansion in amyotrophic lateral sclerosis
Publication 
Nanopore long-read sequencing as a first-tier diagnostic test to detect repeat expansions in neurological disorders
Publication 
Nanopore sequencing as a novel method of characterising anorexia nervosa risk loci
Publication 
The utility of long-read sequencing in diagnosing early-onset Parkinson's disease
Publication Enhanced detection and genotyping of disease-associated tandem repeats using HMMSTR and targeted long-read sequencing
Publication 
Gut microbiome dysbiosis and immune activation correlate with somatic and neuropsychiatric symptoms in COVID-19 patients
