[New paper] New model for calling low-level somatic mutations

We published a new paper in Nature Communications.

In this study, in collaboration with Prof. Jeong Ho Lee (KAIST), Dr. Junho Kim developed a new probabilistic model to accurately call somatic mutations that are present in a very low allele-frequency (<1%). We showed that variant calling on this low-level somatic mutations is technically very difficult in conventional method, and must accompany more observations, which we used as technical replicates. We showed our new model, RePlow, remarkably increased the accuracy including 99% reduction of false positive calls. Dachan Kim, Ju Heon Maeng and Hyeonju Son also participated in the study as authors.

"The use of technical replication for detection of low-level somatic mutations in next-generation sequencing", Nature Communications 2019, 10, Article number 1047