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Shazia Mahamdallie
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The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing
article
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability
scientific article published on May 2017
Identification of new Wilms tumour predisposition genes: an exome sequencing study
article
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
Clinical Annotation Reference Templates: a resource for consistent variant annotation
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