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GenomicsGenotype - samples
PNET genotyping
EGAD00010000260 | EGA
GenomicsMolecular Sub-grouping of CNS-PNET
In our study we aimed to define CNS-PNET subgroups. We performed Expression, Genotyping and/or Immunohistochemistry on 142 samples from 20 worldwide centers. Using these techniques, we have identified three molecular subgroups with distinct expression and copy number patterns, as well as, unique c...
EGAS00000000116 | EGA
GenomicsAnnie Huang and the Hospital for Sick Children
Data Access Committee EGAC01000000015
EGAC01000000015 | EGA
UnknownThe global burden of adolescent and young adult cancer in 2019: a systematic analysis for the Global Burden of Disease Study 2019.
Not available
S-EPMC8716339 | biostudies-literature
TranscriptomicsHigh-resolution copy number analysis of medulloblastoma
We used high-resolution SNP genotyping to identify regions of genomic gain and loss in the genome of 212 medulloblastomas, a malignant pediatric brain tumor. Focal amplifications of fifteen known oncogenes and focal deletions of twenty known tumor suppressor genes (TSG) were revealed, most not prev...
ORGANISM(S): Homo sapiens 
2010-04-06 | E-GEOD-14437 | biostudies-arrayexpress
UnknownRare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD.
Not available
S-EPMC10700338 | biostudies-literature
Genomicsena-DATASET-GoT2D/T2D-GENES-09-07-2016-02:03:47:226-1135 - samples
The GoT2D study includes ~2800 samples, half T2D cases and half T2D controls, of Northern European ancestry sequenced over 3 three technologies: deep whole exome sequencing, low-pass (4x) whole genome sequencing, and OMNI 2.5M genotyping. Samples were ascertained to be phenotypically "extreme" (e.g....
EGAD00001002247 | EGA
GenomicsImputation analysis file
This data set includes the following summary level data file used for the imputation data: imputation.sv.assoc.txt: results from single variant association analysis in imputed samples
EGAD00010001184 | EGA
Genomics13K T2D-GENES analysis files
This data set includes the following summary level data files used for the 13k analysis of T2D-GENES data: wes.variants.list: list of variants to keep for any analysis of the exomes data wes.assoc.samples.list: list of samples to keep for association analysis wes.assoc.variants.list: list of variant...
EGAD00010001188 | EGA
GenomicsGoT2D WGS analysis files
This data set includes the following summary level data files used for the GoT2D WGS analysis: wgs.assoc.samples.list: list of samples to keep for association analysis wgs.assoc.variants.list: list of variants to keep for association analysis wgs.sv.assoc.txt: single variant association results
EGAD00010001185 | EGA
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