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NEW YORK – The Genome in a Bottle Consortium (GIAB) has publicly released a benchmarking data set for calling germline structural variants (SV) of insertions and deletions larger than 50 bp.

The benchmark set contains 7,281 sequence resolved insertions and 5,464 deletions that could be used to identify either false positive or false negative SV calls in normal, nontumor samples. The data also include the genomic regions where these calls are likely to be found, which are critical for identifying false positive variant calls.

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