The Journal of Molecular Diagnostics
ISSN: 1525-1578
Datasets associated with articles published in The Journal of Molecular Diagnostics
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- Data for: Practical bioinformatic DNA-sequencing pipeline for detecting oncogene amplification and EGFRvIII mutational status in clinical glioblastoma samplesDataset 1. Sequencing and z-score normalized data results from reference and CNS samples. (A and B) Reference population coverage with means and standard deviations used to calculate z-scores shown at the top. Amplicon z-scores and followed by gene z-scores (A) and EGFRvIII z-scores (B) used to identify focal gene amplification (z-score > 5, final column in A) and EGFRvIII (z-score > 10, final column in B), respectively (EGFR.d2.7 = EGFRvIII). Dataset 2. Reference values used to calculate amplicon and EGFRvIII z-scores from raw coverage matrix and sample metadata. For complete and actively updated repository that uses this reference data, refer to https://github.com/Michael-L-Miller/CoveRageAnalysis (doi:10.5281/zenodo.1220399).
- Data for: MPA, a free, accessible and efficient pipeline for SNV annotation and prioritization for NGS routine molecular diagnosis.Dataset of variants used in this study
- Data for: Validity of targeted next generation sequencing in routine care for identifying clinically relevant molecular profiles in non-small cell lung cancer: results of a 2 years experience on 1343 samples1343 NSCLC patients. Molecular diagnosis, CAST vs NGS. Description of molecular alterations (alterations associations, identifications of new actionable targets) using NGS.
- Data for: Performance Metrics for Targeted Next Generation Sequencing Panels Using Reference MaterialsThis is NGS data (VCF files) for targeted sequencing panels (Illumina Inherited Disease Panel and Ion Torrent AmpliSeq Inherited Disease Panel) performed on NIST RMs 8398, 8392 and 8393 (NA12878, GM24149, GM24143, GM24385, GM24631).