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Authors whose works are in public domain in at least one jurisdiction

List of works by Simon P Sadedin

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

scientific article
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

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

scientific article published on 19 November 2019
Bazam: A rapid method for read extraction and realignment of high throughput sequencing data

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus

scientific article published on 09 July 2020

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