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List of works by Peter Georgeson

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

scientific article published on 3 March 2016

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

scientific article published on February 2017

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

scientific article published on 01 January 2019

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

scientific article published on 01 September 2019

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

scientific article

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.

scientific article

Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers

scientific article published on 07 January 2021

Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival

scientific article published on 20 July 2020

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

scientific article published on 11 November 2016

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

scientific article published on 04 June 2019

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

scientific article

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

scientific article published on 16 May 2017

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

scholarly article by Chol-Hee Jung published in October 2018

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