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EGAS00001000602-sc-20151012 - samples

ABSTRACT: The HELIC study has been whole genome sequencing individuals from 2 Greek isolated populations at 1x depth. The genotype calling process crucially involves a VQSR step followed by imputation-based refinement. We have been investigating optimal ways to increase calling accuracy. To aid us in setting appropriate parameters for VQSR and other QC steps, we have carried out whole exome sequencing of a small number of HELIC samples.

PROVIDER: EGAD00001001638 | EGA |

REPOSITORIES: EGA

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Whole exome sequencing for HELIC

Project description:The HELIC study has been whole genome sequencing individuals from 2 Greek isolated populations at 1x depth. The genotype calling process crucially involves a VQSR step followed by imputation-based refinement. We have been investigating optimal ways to increase calling accuracy. To aid us in setting appropriate parameters for VQSR and other QC steps, we have carried out whole exome sequencing of a small number of HELIC samples.

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