Kofi Amoah

The paper identifies allele-specific splicing events in brain tissues linked to Alzheimer's disease risk and functional genetic variation.

The paper identifies allele-specific alternative polyadenylation events in Alzheimer's disease brains and links them to genetic risk loci for neurodevelopmental and neurodegenerative disorders.

The paper uses long-read RNA-seq and isoLASER to distinguish cis- and trans-directed splicing events in human and mouse data, identifying thousands of cis-regulated events in disease-relevant genes.

The paper develops Mosaic, a machine learning system that classifies tumors into detailed subtypes and identifies molecular phenotypes using histopathologic and genomic data from a large patient cohort.

The paper identifies allele-specific alternative splicing events across human tissues and develops a method to predict functional splicing-altering variants, finding many are linked to GWAS SNPs.