Truth sets for variant calling validation
Hi everyone!
I was looking for validated truth sets in order to test my custom pipeline for variant calling.
I've already found the ICGC-TCGA DREAM truth sets ( https://www.synapse.org/#!Synapse:syn312572/wiki/62018 ), and the genome in a bottle truth sets (http://jimb.stanford.edu/giab).
Can you suggest me additional sets?
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Kevin Blighe
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filippo.martignano •
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filippo.martignano •
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The NA12878 (human), among other samples, has been characterized by virtually every technology on the planet (Genome in a bottle project). So you should be able to find a truth set for that genome.
Hey Filippo, the ICGC set looks perfectly fine.Obviously, the ideal situation is to perform 'in house' validation against a gold standard. In clinical genetics laboratories, the gold standad is still Sanger di-deoxy sequencing.