Germline genome ground truth sets
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3.5 years ago
Richard ▴ 580

Hi all,

Apart from the wonderful work done by Genome in a Bottle on the NA12878 cell line, are there any other cells lines out there that provide good ground truth for germline testing?

We're interested in SNVs, indels, CNVs, and SVs. Extra points if the ground truth set is for a blood cell line

ground truth • 570 views
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Not exactly answering your question, but this paper is worth reading in this context: A synthetic-diploid benchmark for accurate variant-calling evaluation.

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