Detection and genomic analysis of BRAF fusions in Juvenile Pilocytic Astrocytoma through the combination and integration of multi-omic data.

Melissa ZwaigAudrey BaguetteBo HuMichael JohnstonHussein LakkisEmily M NakadaDamien FauryNikoleta JureticBenjamin EllezamAlexandre G WeilJason KaramchandaniJacek MajewskiMathieu BlanchetteMichael D TaylorMarco GalloClaudia L KleinmanNada JabadoJiannis Ragoussis

Published in: BMC cancer (2022)

We demonstrate the power of integrating multi-omic datasets to identify low frequency fusions and characterize the JPA genome at high resolution. We suggest that linked-reads and Hi-C could be used in clinic for the detection and characterization of JPAs.

Keyphrases

high resolution
loop mediated isothermal amplification
real time pcr
label free
primary care
mass spectrometry
electronic health record
genome wide
rna seq
big data
single cell
data analysis
deep learning
metastatic colorectal cancer