Naomi Wilcox

A unified framework for quantitative splicing and transcript prediction

This paper introduces SpliceAI2, a deep learning model that improves identification and quantification of splice-altering variants and their effects on transcripts and disease.

The contribution of coding variants to the heritability of multiple cancer types using UK Biobank whole-exome sequencing data

The paper estimates the contribution of rare coding variants to cancer heritability using UK Biobank whole-exome sequencing data and finds ovarian cancer has the highest proportion of heritability from protein-truncating variants.

Exome sequencing identifies novel susceptibility genes and defines the contribution of coding variants to breast cancer risk.

The paper uses whole-exome sequencing data to identify novel breast cancer susceptibility genes and assess the contribution of coding variants to breast cancer risk.