ASHG_Sedlazeck_Sniffles_share.pptx (14.29 MB)
Sniffles , NGMLR talk @ ASHG 2017
Talk from ASHG 2017 describing enhanced long read mapping (NGMLR) and SVs calling (Sniffles) plus biases in illumina SV calling. Plus introducing SURVIVOR a tool kit to merge/ simulate and compare SVs in seconds.