William T. Gibson

EpiSignaLR: an open resource for genome-wide episignature analysis from methylation-aware short- and long-read sequencing

The paper develops EpiSignaLR, a resource for genome-wide episignature analysis using methylation-aware sequencing data, identifying DMRs and classifiers for three neurodevelopmental disorders.

Identifying Rare Germline Variants Associated with Metastatic Prostate Cancer Through an Extreme Phenotype Study

This study identifies rare germline variants associated with metastatic prostate cancer using an extreme phenotype cohort and validates their functional impact.

Mimicking Human EED Variants in Drosophila: A Promising Strategy to Analyze Human EED Variant Function

The paper uses Drosophila to functionally assess human EED variants, showing that pathogenic variants cause loss of function while benign variants function normally.

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders

This study shows that GTF2I dosage affects neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders using patient-derived organoids and mouse models.

Benchmarking brain organoid recapitulation of fetal corticogenesis

This study benchmarks brain organoid gene co-expression patterns against fetal corticogenesis to assess their alignment with in vivo development.

Transient Polycomb activity represses developmental genes in growing oocytes.

The paper identifies a transient period of PRC2 activity in mouse and human oocytes that represses developmental genes, with conservation in human germline but loss during early embryonic development.

ACE 2 Coding Variants: A Potential X-linked Risk Factor for COVID-19 Disease

The paper investigates rare ACE2 coding variants as potential X-linked risk factors for COVID-19, showing their frequency and impact on SARS-CoV-2 binding in different populations.

Identification of rare de novo epigenetic variations in congenital disorders

The paper identifies de novo epigenetic variations in congenital disorders and shows their impact on gene expression and potential diagnostic relevance.