What are the reference material needs for ensuring accuracy in calling structural variants and how can these be developed?
Asked by Anonymous
There are groups working on this right now. The Genome in a Bottle (GIAB) consortium has been working on developing tools for SV calling and data comparison. Additionally, a part of the 1000 genomes project has continued specifically to work on SV calling and comparisons. Both groups have been using a variety of sequencing technologies and analysis methods to address these questions.
One approach they have in common is to use data from family trios, so we have information from the mother, father and child so that inheritance information can be taken into account. I expect information from these projects to be critical for moving the field forward.
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