Recent publications published by researchers at the MRC WIMM.
CREST-GV: Cell types Ranking and Enrichment Score for selecTive Genetic Variants
Riva SG. et al, (2025)
REnformer, a single-cell ATAC-seq predicting model to investigate open chromatin sites
Riva SG. et al, (2025)
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT. et al, (2023), Genome Med, 15
Author Correction: Capture-C: a modular and flexible approach for high-resolution chromosome conformation capture.
Downes DJ. et al, (2023), Nat Protoc, 18
Ancient genomic linkage couples metabolism with erythroid development.
Preston AE. et al, (2023), bioRxiv
CATCH-UP: A High-Throughput Upstream-Pipeline for Bulk ATAC-Seq and ChIP-Seq Data.
Riva SG. et al, (2023), J Vis Exp
GTAC enables parallel genotyping of multiple genomic loci with chromatin accessibility profiling in single cells.
Turkalj S. et al, (2023), Cell Stem Cell, 30, 722 - 740.e11
Direct correction of haemoglobin E β-thalassaemia using base editors.
Badat M. et al, (2023), Nat Commun, 14
Inferring causal genes at type 2 diabetes GWAS loci through chromosome interactions in islet cells.
Torres JM. et al, (2023), Wellcome Open Res, 8
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features.
Robbe P. et al, (2022), Nat Genet, 54, 1675 - 1689
Natural and Experimental Rewiring of Gene Regulatory Regions.
Downes DJ. and Hughes JR., (2022), Annu Rev Genomics Hum Genet, 23, 73 - 97
LanceOtron: a deep learning peak caller for genome sequencing experiments.
Hentges LD. et al, (2022), Bioinformatics
The chromatin remodeller ATRX facilitates diverse nuclear processes, in a stochastic manner, in both heterochromatin and euchromatin.
Truch J. et al, (2022), Nat Commun, 13
Chromatin interaction maps identify Wnt responsive cis-regulatory elements coordinating Paupar-Pax6 expression in neuronal cells.
Pavlaki I. et al, (2022), PLoS genetics, 18