ACT-Discover: identifying karyotype heterogeneity in pancreatic cancer evolution using ctDNA.

Ariana HuebnerJames R M BlackFrancesca SarnoRoberto PazoIgnacio JuezLaura MedinaRocio Garcia-CarboneroCarmen GuillénJaime FeliúCarolina AlonsoCarlota ArenillasAna Belén Moreno-CárdenasHelena VerdaguerTeresa MacarullaManuel HidalgoNicholas McGranahanRodrigo A Toledo

Published in: Genome medicine (2023)

This work demonstrates the power of haplotype phasing to study genomic variation in cfDNA samples and reveals undiscovered intra-tumour heterogeneity with important scientific and clinical implications. Implementation of ACT-Discover could lead to important insights from existing cohorts or underpin future prospective studies seeking to characterise the landscape of tumour evolution through liquid biopsy.

Keyphrases

single cell
healthcare
primary care
mental health
ultrasound guided
quality improvement
case control
current status
copy number
genome wide