Concepedia

Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations

Isabella Zanella, Francesca Merola, Giorgio Biasiotto, Silvana Archetti, Elide Spinelli, Diego Di Lorenzo

Experimental and Molecular Pathology · 2017 · 19 citations · 9 references

DOI

Concepts

References

9

ACMG clinical laboratory standards for next-generation sequencing

Heidi L. Rehm, Sherri J. Bale, Pınar Bayrak‐Toydemir et al. · Genetics in Medicine · 2013 · 930 citations · Full text

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Shining a Light on Dark Sequencing: Characterising Errors in Ion Torrent PGM Data

Lauren M. Bragg, Glenn Stone, Margaret K. Butler et al. · PLoS Computational Biology · 2013 · 297 citations · Full text

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Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer

Daniel Trujillano, Maximilian E. R. Weiss, Juliane Schneider et al. · Journal of Molecular Diagnostics · 2014 · 63 citations · Full text

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Improving Indel Detection Specificity of the Ion Torrent PGM Benchtop Sequencer

Zhen Xuan Yeo, Maurice Chan, Yoon Sim Yap et al. · PLoS ONE · 2012 · 55 citations · Full text

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Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes

Zhen Xuan Yeo, Joshua C. L. Wong, Steve Rozen et al. · BMC Genomics · 2014 · 43 citations · Full text

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