Publications | Peter Georgeson

Bionitio: demonstrating and facilitating best practices for bioinformatics command-line software

Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome

Annotation of the Giardia proteome through structure-based homology and machine learning

sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX

Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells

UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders