Robert J. Allaway

mafsmith reimplements vcf2maf in Rust, achieving faster and more efficient conversion of VCF files to MAF with identical output across multiple datasets.

The paper develops and characterizes semi-immortalized Schwann cell lines from NF1-associated cutaneous neurofibromas to aid in studying and developing therapies for NF1.

The paper provides an integrated genomic analysis of NF1-associated peripheral nerve sheath tumors using RNAseq and WES data from 73 and 114 samples, respectively, accessible via the NF Data Portal.

The paper uses statistical and machine learning methods to analyze NF1 tumor genomic data, identifying key signaling pathways and molecular features associated with different tumor types and potential drug targets.

The paper trains a machine learning classifier on cancer transcriptomes to detect NF1 inactivation in glioblastoma, showing it can predict NF1 status based on gene expression and mutation data.