Structural variation in gnomAD

Last week, we released the initial structural variant (SV) callset for the Genome Aggregation Database (gnomAD), which included nearly a half-million distinct SVs discovered across ~15 thousand human whole-genome sequences.

We've posted our results as a preprint manuscript on bioRxiv, but we've also proivded a more digestable overview of the study on the MacArthur Lab Website

You can also download the dataset from the gnomAD website (with absolutely zero restrictions on reanalysis & publication), or interact with the dataset via the online gnomAD Browser.

Take a look! If you do use the resource or read the preprint, I would love to hear what you think.