Laura Fachal

An integrated multimodal pan-organ atlas of the female reproductive system across the lifespan contextualises gynaecological pathologies

This paper creates an integrated multimodal atlas of the female reproductive system across the lifespan, identifying cell types and linking them to gynaecological pathologies.

Resolving inflammatory bowel disease risk variants to genes and cell types

This study identifies 619 IBD risk signals, resolves 81 high-confidence variants, and prioritizes 664 candidate effector genes using GWAS, eQTL, and exome sequencing.

Exome sequencing directly implicates 68 genes in inflammatory bowel disease

This study uses exome and genome sequencing to identify 68 genes directly associated with inflammatory bowel disease, providing clearer genetic insights and therapeutic targets.

Cystic fibrosis risk variants confer protection against inflammatory bowel disease

The paper identifies CFTR loss-of-function variants as protective against IBD using large-scale exome sequencing data and evaluates variant prioritization methods.

Cell-type-resolved genetic regulatory variation shapes inflammatory bowel disease risk

The paper maps cell-type-specific eQTLs in IBD patients to identify effector genes and mechanisms linking genetic risk to disease.

ShaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores

ShaPRS improves polygenic score accuracy by leveraging shared genetic effects across traits or ancestries, enhancing performance for complex diseases and across populations.

Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility

The paper identifies ten new genes with coding variants linked to Crohn's disease risk using sequencing data from over 30,000 patients and 80,000 controls.

Chromatin interactome mapping at 139 independent breast cancer risk signals

The paper maps chromatin interactions at 139 breast cancer risk signals using Capture Hi-C and identifies candidate target genes and functional mechanisms.

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

This study fine-maps 150 breast cancer risk regions to identify 178 high confidence target genes using genomic and functional annotations.

High-throughput allelic expression imbalance analyses identify candidate breast cancer risk genes

The paper identifies 14 genes, including NTN4, associated with breast cancer risk variants through allelic expression imbalance analysis.