SNP array detection for comparison of WGS technologies.
Ontology highlight
ABSTRACT: We sequenced two tumor/normal pairs obtained from two paediatric medulloblastoma patients (MB14 and MB24) with at least 30x coverage on all commonly used next-generation sequencing platforms for whole genome sequencing (SOLiD 4, 5500xl SOLiD, Illumina's HiSeq2000, and Complete Genomic' technology). The normal tissue samples came from venous blood. We compared their ability to call single nucleotide variations (SNVs) in whole-genome sequencing data with high confidence. As gold standard for SNV calling, we used genotypes determined by Affymetrix SNP 6.0 Array Technology (total of 907,551 SNPs after quality filtering).
ORGANISM(S): Homo sapiens
SUBMITTER: Pavel Komardin
PROVIDER: E-MTAB-1159 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
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