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TranscriptomicsSNP array detection for comparison of WGS technologies.
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). ...
ORGANISM(S): Homo sapiens 
2013-06-01 | E-MTAB-1159 | biostudies-arrayexpress
Genomics2013-11-19-17-24-36-breez-MB-2013-10-18-Whole_exome_DNAseq_Medulloblastoma - samples
Illumina HiSeq sequence data (with >80x coverage) were aligned to the hg19 human reference genome assembly using BWA (Li and Durbin, 2009); duplicate reads were removed from the final BAM file. No realignment or recalibration was performed. The whole exome sequencing data of 20 SHH medulloblastomas ...
EGAD00001000698 | EGA
GenomicsSHH medulloblastoma samples
Sequencing data of human SHH medulloblastoma samples
EGAS00001000607 | EGA
UnknownGRM7 variants confer susceptibility to age-related hearing impairment.
Not available
S-EPMC2638831 | biostudies-literature
GenomicsDATA_SET_Coverage_bias_sensitivity_of_variant_calling_for_4_WG_seq_tech - samples
DATA_SET_Coverage_bias_sensitivity_of_variant_calling_for_4_WG_seq_tech
EGAD00001000174 | EGA
GenomicsCoverage bias and sensitivity of variant calling for four whole-genome sequencing technologies
Massively parallel sequencing has revolutionized research in cancer genetics and genomics and enhanced our understanding of natural human genetic variation. Recently, Lam et al. have performed a detailed comparison of two next-generation sequencing technologies with respect to their sensitivity to c...
EGAS00001000274 | EGA
Genomicsena-DATASET-DKFZ-IBIOS-01-08-2014-08:50:46:817-29 - samples
Low-coverage whole genome sequencing of sporadic schwannomatosis patients
EGAD00001000964 | EGA
Genomicsena-DATASET-DKFZ-IBIOS-01-08-2014-08:47:40:399-28 - samples
Exome sequencing of sporadic schwannomatosis patients
EGAD00001000963 | EGA
GenomicsNext generation sequencing of sporadic schwannomatosis samples
Schwannomatosis (MIM #162091) is characterized by the development of multiple schwannomas without vestibular nerve involvement (which is a characteristic of neurofibromatosis type 2 - NF2). In an effort to detect novel genetic alterations predisposing to schwannomatosis, we sequenced eight tumor-blo...
EGAS00001000767 | EGA
GenomicsWGSeq_HealthyHuman_DATA_SET_xmas_MB_2013_07_10 - samples
HSC73_clone: Bone marrow mononuclear cells from the healthy 73 years old female were thawed and labeled with Alexa-Fluor 488-conjugated anti-CD34 (581, Biolegend), Alexa-Fluor 700-conjugated anti-CD38 (HIT2, eBioscience), a cocktail of APC-conjugated lineage antibodies consisting of anti-CD4 (RPA-T4...
EGAD00001000666 | EGA
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