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Elise Ruark

Showing results (1-10 of 28) with videos related to

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JNCI Cancer Spectrum|July 31, 2019
Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 CancersShawn Yost, Elise Ruark, Ludmil B Alexandrov, et al.
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|June 9, 2018
CoverView: a sequence quality evaluation tool for next generation sequencing dataMárton Münz, Shazia Mahamdallie, Shawn Yost, 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|May 2, 2017
Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoNAnna Fowler, Shazia Mahamdallie, Elise Ruark, 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.
Pageof 3

Showing results (1-10 of 28) with videos related to

Sort By:
Pageof 3
JNCI Cancer Spectrum|July 31, 2019
Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 CancersShawn Yost, Elise Ruark, Ludmil B Alexandrov, et al.
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|June 9, 2018
CoverView: a sequence quality evaluation tool for next generation sequencing dataMárton Münz, Shazia Mahamdallie, Shawn Yost, 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|May 2, 2017
Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoNAnna Fowler, Shazia Mahamdallie, Elise Ruark, 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.
Pageof 3