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List of works by Emma Poyastro-Pearson

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.

scientific article published on 25 November 2016

CoverView: a sequence quality evaluation tool for next generation sequencing data.

scientific article

The ICR1000 UK exome series: a resource of gene variation in an outbred population

scientific article published on 22 September 2015

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis

scientific article

The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing

article

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data

scientific article

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing  data quality assurance

scientific article published on 4 April 2018

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