Chris Paul Ponting

Targeted-learning GWAS of 1,268 UK Biobank ME/CFS cases found 176 FDR-significant variants; seven replicated in disjoint UK Biobank or All of Us cohorts.

The paper identifies 1,960 variants that disrupt transcription factor binding affinity by analyzing ChIP-sequencing data for allelic imbalance at heterozygous sites.

The paper profiles the morphological effects of 2,565 human and 1,900 mouse miRNAs on 24 million cells across five cell lines, finding that 9% and 15% of miRNA mimics significantly alter cell morphology.

The paper identifies a splice variant-dependent localization of PMCA2 to lysosomes and links it to neurodegenerative diseases.

The paper identifies epistatic interactions among DNA variants affecting human traits by combining machine learning with experimentally verified transcription factor binding data.

This study conducts a genome-wide association study (GWAS) of ME/CFS, identifying eight genetic loci associated with the disease, suggesting involvement of immune and neurological processes.

This study replicates a previous experiment and finds no significant differences in mitochondrial phenotypes of myoblasts exposed to ME or control serum.

Stator identifies cell types, subtypes, and states in single-cell data by analyzing higher-order gene expression dependencies, revealing cryptic states and subtypes not captured by proximity-based clustering.

This study identifies FAM111A as a regulator of DNA replication origin activation and shows its interaction with FAM111B and HMCES, with implications for disease when its peptidase domain is intact.

This study identifies the role of SPT2 in chromatin structure and function across Metazoa, showing its importance in germline development and chromatin accessibility.

TarGene is a statistical workflow that estimates effect sizes and epistatic interactions without parametric assumptions, validated on UK Biobank data and showing genetic non-linearity and epistasis.

This study profiles adult mouse spinal cord ependymal cells using single-cell RNA-sequencing, revealing a new mature state and dynamic maturation regulation in response to injury.

The paper refines the domain architecture model of Treslin/TICRR by identifying new structural features and their functional roles in replication origin firing.

The paper identifies KRAB-ZFP genes' influence on CpG-site methylation and links these methylation patterns to disease phenotypes like rheumatoid arthritis and HIV infection.

The paper identifies molecularly distinct astrocyte subpopulations in the adult mouse brain and shows their spatial distribution has functional implications.

The paper identifies and functionally characterizes long non-coding RNAs in C. elegans using transcriptome analysis and CRISPR/Cas9 mutagenesis.

The paper uses single-cell RNA-seq to compare Barretts esophagus with normal esophageal tissues, finding transcriptional similarities with esophageal cells but not with gastric or duodenal cells.

The paper identifies Paupar, a lncRNA that interacts with KAP1 to regulate chromatin structure and neurogenesis in the subventricular zone.

The paper identifies genetic variants affecting vitamin D receptor binding and links them to autoimmune diseases.

The paper identifies altered gene expression in microglial and neuronal markers in postmortem ASD cortex, suggesting changes in cell type density.