Laura Clarke

Population-scale proteome variation in human induced pluripotent stem cells

The paper characterizes proteome variation across 202 human iPSC lines, identifies 700 pQTLs, and links pQTLs to disease-associated GWAS variants.

Single-cell RNA-seq of differentiating iPS cells reveals dynamic genetic effects on gene expression

The paper uses single-cell RNA-seq of differentiating iPS cells from 125 donors to identify expression quantitative trait loci influencing gene expression during endoderm differentiation.

Cell type specific novel lincRNAs and circRNAs in the BLUEPRINT haematopoietic transcriptomes atlas.

The paper identifies novel long non-coding RNAs and circular RNAs in hematopoietic cells using BLUEPRINT consortium data, highlighting their cell type specificity.

Variation in PU.1 binding and chromatin looping at neutrophil enhancers influences autoimmune disease susceptibility

The paper identifies how variation in PU.1 binding and chromatin looping at neutrophil enhancers influences autoimmune disease susceptibility and cell count differences.

Multi-platform discovery of haplotype-resolved structural variation in human genomes

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

Epigenomic and functional dynamics of human bone marrow myeloid differentiation to mature blood neutrophils

The paper maps the epigenomic and functional changes during human neutrophil differentiation from bone marrow progenitors to mature cells, revealing key regulatory mechanisms.

Repeat associated mechanisms of genome evolution and function revealed by the Mus caroli and Mus pahari genomes

The paper compares genome assemblies of Mus caroli and Mus pahari with Mus musculus and Rattus norvegicus to reveal lineage-specific evolutionary mechanisms, particularly repeat-associated processes.

Comparative analysis of neutrophil and monocyte epigenomes

This study compares the epigenomes of neutrophils and monocytes to identify regulatory elements and chromatin states, revealing differences in enhancer activity and DNA methylation.

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

This paper evaluates GRCh38 and de novo haploid assemblies, finding that GRCh38 remains superior for complex genomic regions and coding sequences despite improvements in newer assemblies.

Common genetic variation drives molecular heterogeneity in human iPSCs

This study analyzes 522 human iPSCs to identify genetic sources of phenotypic variation, finding 5-25% of variation in traits like differentiation capacity is due to individual differences.