SoftGenetics - Software PowerTools for Genetic Analysis








  1. Adams, P, A Levstik, and B Sadikovic. A191 NEXT GENERATION SEQUENCING IN THE
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  2. Costa, Kárita Antunes, Mariana Vallim Salles, Chris Whitebirch, John Chiang, and Juliana Maria Ferraz Sallum. Gene Panel Sequencing in Brazilian Patients with Retinitis Pigmentosa. International Journal of Retina and Vitreous 3, no. 1 (September 1, 2017): 1–11. (Read the article)
  3. Crobach, Stijn, Anne M. L. Jansen, Marjolein J. L. Ligtenberg, Marije Koopmans, Maartje Nielsen, Frederik J. Hes, Juul T. Wijnen, Winand N. M. Dinjens, Tom van Wezel, and Hans Morreau. Excluding Lynch Syndrome in a Female Patient with Metachronous DNA Mismatch Repair Deficient Colon- and Ovarian Cancer. Familial Cancer 17, no. 3 (July 1, 2018): 415–20. (Read the article)
  4. Davies, Kurtis D., Midhat S. Farooqi, Mike Gruidl, Charles E. Hill, Julie Woolworth-Hirschhorn, Heather Jones, Kenneth L. Jones, et al. Multi-Institutional FASTQ File Exchange as a Means of Proficiency Testing for Next-Generation Sequencing Bioinformatics and Variant Interpretation. The Journal of Molecular Diagnostics 18, no. 4 (July 1, 2016): 572–79. (Read the article)
  5. Gable, Mary, Julie Honeychurch, Hilary Sawyer, Ruth Newbury-Ecob, Colin Steward, Leema Robert, Tootie Bueser, Carol Gardiner, Claire Bowen, and Maggie Williams. 196 Paediatric
    Cardiomyopathy (PC); The Validation, Implementation and Utility of a 71 Gene NGS Diagnostic Panel to Detect Variants in Rare Cardiac Genes.
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  6. Hirsch, Yoel, David A. Zeevi, Byron L. Lam, Scher Sholem Y, Bringer Rachel, Cherki Bitya, Cadina C. Cohen, et al. A Founder Deletion in the TRPM1 Gene Associated with Congenital Stationary Night Blindness and Myopia Is Highly Prevalent in Ashkenazi Jews. Human Genome Variation; London 6, no. 1 (September 2019). (Read the article)
  7. Jong, Yvonne de, Martha Ingola, Inge H. Briaire-de Bruijn, Alwine B. Kruisselbrink, Sanne
    Venneker, Ieva Palubeckaite, Bram P. A. M. Heijs, Anne-Marie Cleton-Jansen, Rick L. M. Haas, and Judith V. M. G. Bovée. Radiotherapy Resistance in Chondrosarcoma Cells; a Possible Correlation with Alterations in Cell Cycle Related Genes. Clinical Sarcoma Research; London 9 (2019). (Read the article)
  8. Kassahn, Karin S., Hamish S. Scott, and Melody C. Caramins. Integrating Massively Parallel Sequencing into Diagnostic Workflows and Managing the Annotation and Clinical Interpretation Challenge. Human Mutation 35, no. 4 (2014): 413–23. (Read the article)
  9. Levy, Michael A., Stephanie Santos, Jennifer Kerkhof, Alan Stuart, Erfan Aref-Eshghi, Fen Guo, Ben Hedley, et al. Implementation of an NGS-Based Sequencing and Gene Fusion Panel for Clinical Screening of Patients with Suspected Hematologic Malignancies. European Journal of Haematology 103, no. 3 (2019): 178–89. (Read the article)
  10. Mulder, Babs G. Sibinga, J. Sven D. Mieog, Henricus J. M. Handgraaf, Arantza Farina Sarasqueta, Hans F. A. Vasen, Thomas P. Potjer, Rutger-Jan Swijnenburg, et al. Targeted Next-Generation Sequencing of FNA-Derived DNA in Pancreatic Cancer. Journal of Clinical Pathology 70, no. 2 (February 1, 2017): 174–78. (Read the article)
  11. Mulder, Babs G. Sibinga, J. Sven D. Mieog, Arantza Farina Sarasqueta, Henricus JM Handgraaf, Hans F. A. Vasen, Rutger-Jan Swijnenburg, Saskia A. C. Luelmo, et al. Diagnostic Value of Targeted Next-Generation Sequencing in Patients with Suspected Pancreatic or Periampullary Cancer. Journal of Clinical Pathology 71, no. 3 (March 1, 2018): 246–52. (Read the article)
  12. Schenkel, Laila C., Jennifer Kerkhof, Alan Stuart, Jack Reilly, Barry Eng, Crystal Woodside,
    Alexander Levstik, et al. Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis. The Journal of Molecular Diagnostics 18, no. 5 (September 1, 2016): 657–67. (Read the article)
  13. Schneider, Tatiana C., Djoeke de Wit, Thera P. Links, Nielka P. van Erp, Jakobus J. M. van der Hoeven, Hans Gelderblom, Inge C. F. M. Roozen, et al. Everolimus in Patients With Advanced Follicular-Derived Thyroid Cancer: Results of a Phase II Clinical Trial. The Journal of Clinical Endocrinology and Metabolism; Washington 102, no. 2 (February 2017): 698–707. (Read the article)
  14. Tsibulak, Irina, Verena Wieser, Christine Degasper, Giridhar Shivalingaiah, Sören Wenzel, Susanne Sprung, Sigurd F. Lax, Christian Marth, Heidelinde Fiegl, and Alain G. Zeimet. BRCA1 and BRCA2 MRNA-Expression Prove to Be of Clinical Impact in Ovarian Cancer. British Journal of Cancer 119, no. 6 (September 11, 2018): 683–92. (Read the article)
  15. Vrijenhoek, Terry, Ken Kraaijeveld, Martin Elferink, Joep De Ligt, Elcke Kranendonk, Gijs Santen, Isaac J. Nijman, et al. Next-Generation Sequencing-Based Genome Diagnostics across Clinical Genetics Centers: Implementation Choices and Their Effects.European Journal of Human Genetics : EJHG; Leiden 23, no. 9 (September 2015): 1142–50. (Read the article)
  16. Wang, Jinlian, Jun Liao, Jinglan Zhang, Cheng Wei-Yi, Jorg Hakenberg, Meng Ma, Bryn D. Webb, et al. ClinLabGeneticist: A Tool for Clinical Management of Genetic Variants from Whole Exome Sequencing in Clinical Genetic Laboratories. Genome Medicine; London 7 (2015). (Read the article)
  17. Yarram-Smith, L., P. Dean, S. O’Shea, G. Dennis, G. Bayly, A. Taylor, A. Day, et al. The Impact of Routine next Generation Sequencing Testing for Familial Hypercholesterolaemia – 5 Months Service Experience. Atherosclerosis 236, no. 2 (October 1, 2014): e304. (Read the article)

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