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List of works by Simon P Sadedin

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

scientific article

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

scientific article published on 18 July 2019

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

Bazam: A rapid method for read extraction and realignment of high throughput sequencing data

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

scientific article published on 19 November 2019

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

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

scientific article

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

scientific article published on 09 July 2020

Ximmer: A system for improving accuracy and consistency of CNV calling from exome data

article by Simon P Sadedin et al published 6 September 2018 in GigaScience

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