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Wellcome Open Research|September 4, 2018
The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testingShazia Mahamdallie, Elise Ruark, Esty Holt, et al.
Scientific Reports|August 4, 2016
OpEx - a validated, automated pipeline optimised for clinical exome sequence analysisElise Ruark, Márton Münz, Matthew Clarke, et al.
Wellcome Open Research|December 4, 2018
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation seriesElise Ruark, Esty Holt, Anthony Renwick, et al.
Wellcome Open Research|July 12, 2018
The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assuranceShazia Mahamdallie, Elise Ruark, Shawn Yost, et al.
F1000Research|September 26, 2018
The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysisElise Ruark, Anthony Renwick, Matthew Clarke, et al.
Genome Medicine|August 29, 2015
CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical settingMárton Münz, Elise Ruark, Anthony Renwick, et al.
Wellcome Open Research|June 21, 2017
The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS dataShazia Mahamdallie, Elise Ruark, Shawn Yost, et al.
Breast Cancer Research and Treatment|April 25, 2012
Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancerKatie Snape, Elise Ruark, Patrick Tarpey, et al.
F1000Research|February 3, 2016
The ICR1000 UK exome series: a resource of gene variation in an outbred populationElise Ruark, Márton Münz, Anthony Renwick, et al.
Breast Cancer Research and Treatment|June 1, 2010
Mutation and association analysis of GEN1 in breast cancer susceptibilityClare Turnbull, Sarah Hines, Anthony Renwick, et al.
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