Alistair R. R. Forrest

This study uses spatial transcriptomics to identify tumour-intrinsic and microenvironmental features linked to survival in high-grade serous ovarian carcinoma.

The paper creates a promoterome and proteome atlas of human skeletal muscles, revealing molecular diversity and identifying key transcription factors and genetic variants associated with muscle traits.

The paper identifies biallelic loss-of-function OBSCN variants in six patients with severe, recurrent rhabdomyolysis and shows reduced OBSCN expression and impaired SR Ca2+ handling in patient muscle.

The paper introduces a hypergraph-based method to detect communities in cell-to-cell communication networks using ligand-receptor interactions and validates it on synthetic and real datasets.

The paper identifies 47 high-confidence ASD-associated CNV regions and shows brain-enriched coding and lncRNA genes are overrepresented in these regions.

The paper compares single-cell and single-nucleus RNA-seq workflows in adult mouse kidneys to identify protocol-specific biases in cell type recovery and transcriptional profiles.

The paper identifies 49 novel noncoding RNAs associated with neurodevelopmental disorders by linking enhancer activity to genetic variants and eQTLs.

MaxHiC improves Hi-C and capture Hi-C analysis by robustly correcting biases and identifying significant chromatin interactions with better biological relevance.

CANCERSIGN identifies and classifies mutational signatures in cancer genomes using raw mutation data, enabling clustering and analysis of ICGC datasets to discover novel signatures.

The paper identifies shared expression patterns of genetic variants across tissues and cell types, enabling fine mapping of disease-associated variants and revealing key cell types involved in disease pathogenesis.

The paper enhances the FANTOM5 expression atlas by associating gene-orphan promoter regions with their transcripts using CAGEscan.

The paper identifies YY1's role in X-linked gene escape from inactivation by analyzing promoter activity and allelic binding in human datasets.