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PG 2016.1
Moore, Ben edited this page Jun 8, 2017
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2 revisions
- Added additional variant validation step: k-mer filtering
- Confident regions are shared by all pedigree members
- Unify hg19/hg38 under 2016.1 release instead of continuing distinct versioning
- Previous releases were: hg19 v8.0.1, hg38 v2.0.1
This release of Platinum Genomes accompanies the manuscript: A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.
Download this release from the releases tab.
For more information or to cite Platinum Genomes, see:
- Eberle, MA et al. (2017) A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree. Genome Research, 27:157-164. doi:10.1101/gr.210500.116