06.29.2018 - By Roman Cheplyaka
In this episode I’m joined by Chang Xu. Chang is a senior biostatistician
at QIAGEN and an author of smCounter2, a low-frequency somatic variant caller.
To distinguish rare somatic mutations from sequencing errors, smCounter2
relies on unique molecular identifiers, or UMIs, which help identify multiple
reads resulting from the same physical DNA fragment.
Chang explains what UMIs are, why they are useful, and how smCounter2 and other
tools in this space use UMIs to detect low-frequency variants.
Links:
smCounter2 preprint
smCounter2 github repository
smCounter publication
Review of somatic SNV callers
If you enjoyed this episode, please consider supporting the podcast on Patreon.