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List of works by Matthew Wakeling

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

scientific article published on 08 January 2019

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series

article by Elise Ruark et al published 31 August 2018 in Wellcome Open Research

InterMine: a flexible data warehouse system for the integration and analysis of heterogeneous biological data

scientific article

Misannotation of multiple-nucleotide variants risks misdiagnosis

scientific article published on 01 October 2019

Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome

scientific article published on 08 October 2019

SavvyCNV: Genome-wide CNV calling from off-target reads

scientific article published on 16 March 2022

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