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EGAS00001001207-sc-20160127 - samples

ABSTRACT: 15x whole genome sequencing in samples from the Cretan Greek isolate collection HELIC MANOLIS

PROVIDER: EGAD00001001897 | EGA |

REPOSITORIES: EGA

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15x WGS HELIC MANOLIS

Project description:15x whole genome sequencing in samples from the Cretan Greek isolate collection HELIC MANOLIS

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Project description:Whole-genome sequencing at 1x of samples from the Cretan Greek isolate collection HELIC-MANOLIS. Genome-wide association studies of complex traits have been successful in identifying common variant associations, but a substantial heritability gap remains. The field of complex trait genetics is shifting towards the study of low frequency and rare variants, which are hypothesised to have larger effects. The study of these variants can be empowered by focusing on isolated populations, in which rare variants may have increased in frequency and linkage disequilibrium tends to be extended. This work focuses on an isolated population from Crete, Greece. Sequencing is very efficient in isolated populations, because variants found in a few samples will be shared by others in extended haplotype contexts, supporting accurate imputation.

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An isolated cohort of samples from the Greek island of Crete that have been genotyped on the Illumina CoreExome array.

Project description:Isolated populations can empower the identification of rare variation associated with complex traits through next generation association studies. Here we have genotyped individuals from a Greek population isolate on the Illumina CoreExome Beadchip. The HELIC (Hellenic Isolated Cohorts) MANOLIS (Minoan Isolates) collection focuses on Anogia and surrounding Mylopotamos villages. Recruitment of this population-based sample was primarily carried out at the village medical centres. All individuals were older than 17 years and had to have at least one parent from the Mylopotamos area. www.helic.org

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Low coverage whole genome sequencing of samples from the Cretan Greek isolate collection HELIC MANOLIS

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Project description:Isolated populations can empower the identification of rare variation associated with complex traits through next generation association studies. Here we have genotyped individuals from a Greek population isolate on the Illumina HumanExome Beadchip. The HELIC (Hellenic Isolated Cohorts) MANOLIS (Minoan Isolates) collection focuses on Anogia and surrounding Mylopotamos villages. Recruitment of this population-based sample was primarily carried out at the village medical centres. All individuals were older than 17 years and had to have at least one parent from the Mylopotamos area. www.helic.org **The data may not be used for population genetics analyses.**

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Illumina Human OmniExpress genotyping data from the Cretan Greek isolate collection HELIC MANOLIS

Project description:Isolated populations can empower the identification of rare variation associated with complex traits through next generation association studies. Here we have genotyped individuals from a Greek population isolate on the Illumina Human OmniExpress BeadChip array. The HELIC (Hellenic Isolated Cohorts) MANOLIS (Minoan Isolates) collection focuses on Anogia and surrounding Mylopotamos villages. Recruitment of this population-based sample was primarily carried out at the village medical centres. All individuals were older than 17 years and had to have at least one parent from the Mylopotamos area. www.helic.org **The data may not be used for population genetics analyses**

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EGAS00001000602-sc-20151012 - samples

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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HELIC_MANOLIS_OmniExpress - samples

Project description:Samples from the Greek island of Crete, MANOLIS cohort

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HELIC_MANOLIS_ExomeChip - samples

Project description:Samples from the Greek island of Crete, MANOLIS cohort

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