Customer's Review
The following papers and posters were provided by customers of JSI medical systems:
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Next Generation Sequencing (NGS) as a tool for molecular diagnostics:
practical aspects of validation and data analysis
Evaluation of variant identification software tools by testing BRCA1/2 mutations
Used NGS: 454 Life Sciences
University Hospital Leuven
Center for Human Genetics
Leuven, Belgium
Published: June 2010, European Human Genetics Conference 2010,Gothenburg, Sweden
Format: PDF (3.3 MB) Language: English
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SeqNext: Evaluation of data analysis software for next generation sequencing in a clinical laborytory
Used NGS: Illumina Solexa
City of Hope
Clinical Molecular Diagnostic Lab
Duarte, CA, USA
Published: March 2011, ACMG Annual Clinical Genetics Meeting 2011, Vancouver, Canada
Format: PDF (355 KB) Language: English
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Parallel copy number variation and sequence variation detection with next generation sequencing (NGS)
Used NGS: 454 Life Sciences
Endocrine Practice and Medical Genetics Laboratory
Heidelberg, Germany
Published: May 2011, European Human Genetics Conference 2011, Amsterdam RAI, The Netherlands
Format: PDF (1.2 MB) Language: English
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Next Generation Sequencing with the SOLiD® System and Ion Torrent's PGM Sequencer: Amplicon Resequencing of the CFTR gene using multiplexing
Used NGS: Life Technologies / Ion Torrent
MVZ genteQ GmbH
Hamburg, Germany
Published: May 2011, European Human Genetics Conference 2011, Amsterdam RAI, The Netherlands
Format: PDF (520 KB) Language: English
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Legal Notes: These publications reflect the views only of the corresponding author,
JSI medical systems cannot be held responsible for any use which may be made of the
information contained therein.