Towards a better understanding of the low recall of insertion variants with short-read based variant callers
Wesley Delage, Julien Thévenon, Claire Lemaitre
The paper investigates why short-read variant callers fail to detect many insertions by analyzing callsets from long-read technologies and simulating the impact of insertion features on recall.
BMC Genomics · Nov 4, 2020Peer-reviewedBioinformatics