igsr_1kg_v2a
Variant calling on GRCh38 with the 1000 genomes samples 2
We present biallelic SNVs+INDELs called from 2,548 samples across 26 populations from the 1000 Genomes Project, called directly against GRCh38. We believe this will be a useful reference resource for those working on GRCh38, representing an improvement over the “lift-overs” of 1000 Genomes data that have been available to date and providing a resource necessary for the full adoption of GRCh38 by the community. This call set extends the call set available in ENA study PRJEB30460 containing only the SNVs and includes also the INDELs.
We present biallelic SNVs+INDELs called from 2,548 samples across 26 populations from the 1000 Genomes Project, called directly against GRCh38. We believe this will be a useful reference resource for those working on GRCh38, representing an improvement over the “lift-overs” of 1000 Genomes data that have been available to date and providing a resource necessary for the full adoption of GRCh38 by the community. This call set extends the call set available in ENA study PRJEB30460 containing only the SNVs and includes also the INDELs.