Recent publications published by researchers at the MRC WIMM.
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
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
Author Correction: Capture-C: a modular and flexible approach for high-resolution chromosome conformation capture.
Downes DJ. et al, (2023), Nat Protoc
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
Inferring causal genes at type 2 diabetes GWAS loci through chromosome interactions in islet cells
Torres JM. et al, (2022)
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
Dynamic Runx1 chromatin boundaries affect gene expression in hematopoietic development.
Owens DDG. et al, (2022), Nat Commun, 13
Capture-C: a modular and flexible approach for high-resolution chromosome conformation capture.
Downes DJ. et al, (2022), Nat Protoc, 17, 445 - 475