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[New paper] A first ground truths for mosaic variant is established!

Check out our new paper ‘Establishment of reference standards for multifaceted mosaic variant analysis’ is now available at Scientific Data. We generated 386,613 mosaic SNVs and INDELs based on ultra-deep whole exome sequencing, wherein the mosaic variants exist in a wide range of variant allele frequencies and mimics the cumulative aspect of mosaic variant acquisition in early development.  We hope our work facilitates improved detection of mosaic variants, and contribute to the field for somatic mosaicism studies.

Congratulations!


‘’Establishment of reference standards for multifaceted mosaic variant analysis’ Sci Data 9, 35 (2022). https://doi.org/10.1038/s41597-022-01133-8



 

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