Genome in a Bottle

precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions
The precisionFDA Truth Challenge V2 aimed to assess the state-of-the-art of variant calling in difficult-to-map regions and the Major …
A crowdsourced set of curated structural variants for the human genome
A high quality benchmark for small variants encompassing 88 to 90% of the reference genome has been developed for seven Genome in a …