Variant calling on the GRCh38 assembly with the data from phase three of the 1000 Genomes Project
We present biallelic SNVs called from 2,548 samples across 26 populations from the 1000 Genomes Project, called directly on GRCh38. We believe this will be a useful reference resource for those using GRCh38, representing an improvement over the “lift-overs” of the 1000 Genomes Project data that have been available to date and providing a resource necessary for the full adoption of GRCh38 by the community. Here, we describe how the call set was created and provide benchmarking data describing how our call set compares to that produced by the final phase of the 1000 Genomes Project on GRCh37.
Keyword(s):
2014 ◽
Vol 18
(11)
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pp. 705-710
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Keyword(s):
2012 ◽
Vol 19
(2)
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pp. 289-294
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