Sensitive detection of copy number alterations in samples with low circulating tumor DNA fraction.
Markus Mayrhofer, Rebecka Bergström, Venkatesh Chellappa, Anastassija Kotsalaynen, Sarath Kumar Murugan, Alessio Crippa, Bram De Laere, Karen A. Urtishak, Karina Dalsgaard Sørensen, Kavita Garg, Usha Singh, Martin Eklund, Henrik Grönberg, Johan Lindberg
The paper introduces Jumble, an algorithm that improves the sensitivity of detecting copy number alterations in low ctDNA samples, achieving detection limits of 1-2% for amplifications and 4-8% for deletions.
medRxiv · May 4, 2024 · PreprintGenetic & Genomic Medicine