Concepedia

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis

Laila C. Schenkel, Jennifer Kerkhof, Alan Stuart, Jack Reilly, Barry Eng, Crystal Woodside, Alexander Levstik, Christopher J. Howlett, Anthony Rupar, Joan H.M. Knoll,

Journal of Molecular Diagnostics · 2016 · 60 citations · 15 references

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References

15

DNA sequencing with chain-terminating inhibitors

Frederick Sanger, S. Nicklen, Alan Coulson · Proceedings of the National Academy of Sciences · 1977 · 69.3K citations · Full text

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method.

Frans B.L. Hogervorst, Petra M. Nederlof, Cathal J. McElgunn et al. · PubMed · 2003 · 316 citations

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Points to consider in the clinical application of genomic sequencing

Genetics in Medicine · 2012 · 246 citations · Full text

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The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

Kym M. Boycott, Taila Hartley, Shelin Adam et al. · Journal of Medical Genetics · 2015 · 234 citations · Full text

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