Accurate calling of KIAA1549-BRAF fusions from DNA of human brain tumours using methylation array-based copy number and gene panel sequencing data.
Damian StichelDaniel SchrimpfPhilipp SieversAnnekathrin ReinhardtAbigail K SuwalaMartin SillDavid E ReussAndrey KorshunovBelén M CasaliniAlexander C SommerkampJonas EckerFlorian SeltDominik SturmAstrid GnekowArend KochMichèle SimonPablo Hernáiz DrieverUlrich SchüllerDavid CapperCornelis M van TilburgOlaf WittTill MildeStefan M PfisterDavid T W JonesAndreas von DeimlingFelix SahmAnnika K WefersPublished in: Neuropathology and applied neurobiology (2021)
The KIAA1549-BRAF fusion can be reliably detected from either DNA methylation array or DNA panel data. The use of both methods is recommended for the most sensitive detection of this diagnostically and therapeutically important marker.
Keyphrases
- copy number
- dna methylation
- genome wide
- sensitive detection
- mitochondrial dna
- circulating tumor
- high resolution
- electronic health record
- cell free
- single molecule
- quantum dots
- high throughput
- big data
- gene expression
- metastatic colorectal cancer
- single cell
- data analysis
- loop mediated isothermal amplification
- circulating tumor cells
- machine learning
- genome wide identification
- genome wide analysis