Consistency and reproducibility of next-generation sequencing in cytopathology: A second worldwide ring trial study on improved cytological molecular reference specimens.
Pasquale PisapiaUmberto MalapelleGianluca RomaSonika SaddarQi ZhengFrancesco PepeDario BruzzeseElena VigliarClaudio BellevicineRajyalakshmi LuthraYuri E NikiforovClara Mayo-de-Las-CasasMiguel Angel Molina-VilaRafael RosellMichel BihlSpasenija SavicLukas BubendorfDario de BiaseGiovanni TalliniDavid H HwangLynette M ShollSara Vander BorghtBirgit WeynandDaniel StieberPhilippe VielhAlessandra RappaMassimo BarberisMatteo FassanMassimo RuggeCarlos E De AndreaMaria D LozanoCristiana LupiGabriella FontaniniFernando SchmittCatherine I DumurBettina BisigMassimo BongiovanniSabine Merkelbach-BruseReinhard BüttnerMarina N NikiforovaSinchita Roy-ChowdhuriGiancarlo Tronconenull nullPublished in: Cancer cytopathology (2019)
The data show that the detection of low-abundance mutations is still clinically challenging and may require a visual inspection of sequencing reads to detect. Genomic reference standards in a cytocentrifuge/cytospin format are a valid tool for regular quality assessment of laboratories performing molecular studies on cytology with low-AF mutations.
Keyphrases
- fine needle aspiration
- ultrasound guided
- copy number
- atrial fibrillation
- study protocol
- clinical trial
- electronic health record
- single cell
- high grade
- single molecule
- big data
- gene expression
- randomized controlled trial
- loop mediated isothermal amplification
- dna methylation
- real time pcr
- deep learning
- phase ii
- circulating tumor cells
- anaerobic digestion