A common single nucleotide variant in T is strongly associated with chordoma
Chordoma is a rare malignant bone tumor that expresses the transcription factor T. We conducted an association study of 40 patients with chordoma and 358 ancestry-matched, unaffected individuals with replication in an independent cohort. Whole-exome and Sanger sequencing of T exons reveals a strong risk association ( allelic odds ratio (OR) = 4.9, P = 3.3x10-11, CI= 2.9-8.1) with the common (minor allelic frequency >5%) non-synonymous SNP rs2305089 in chordoma, which is exceptional in cancer genetics.
- 27/05/2015
- 18 samples
- DAC: EGAC00001000000
- Technologies: Illumina Genome Analyzer II, Illumina HiSeq 2000
DUO:0000019 version: 2021-02-23
publication required
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DUO:0000026 version: 2021-02-23
user specific restriction
This data use modifier indicates that use is limited to use by approved users.
DUO:0000028 version: 2021-02-23
institution specific restriction
This data use modifier indicates that use is limited to use within an approved institution.
DUO:0000042 version: 2021-02-23
general research use
This data use permission indicates that use is allowed for general research use for any research purpose.
Wellcome Trust Sanger Institute Cancer Genome Group Data Sharing Policy
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS00001000188 | Cancer Genomics |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
| ID | File Type | Size | Quality Report |
Located in
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|---|---|---|---|---|
| EGAF00000075013 | bam | 7.7 GB | Report |
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| EGAF00000075015 | bam | 7.9 GB | Report |
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| EGAF00000075018 | bam | 8.4 GB | Report |
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| EGAF00000075019 | bam | 2.6 GB | Report |
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| EGAF00000075020 | bam | 2.7 GB | Report |
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| EGAF00000075022 | bam | 3.8 GB | Report |
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| EGAF00000075023 | bam | 3.8 GB | Report |
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| EGAF00000075024 | bam | 5.0 GB | Report |
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| EGAF00000075026 | bam | 4.4 GB | Report |
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| EGAF00000075027 | bam | 3.6 GB | Report |
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| EGAF00000075033 | bam | 9.8 GB | Report |
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| EGAF00000075034 | bam | 13.2 GB | Report |
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| EGAF00000075035 | bam | 3.4 GB | Report |
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| EGAF00000075036 | bam | 3.3 GB | Report |
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| EGAF00000075040 | bam | 1.4 GB | Report |
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| EGAF00000075041 | bam | 4.0 GB | Report |
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| EGAF00000075048 | bam | 7.9 GB | Report |
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| EGAF00000075049 | bam | 8.0 GB | Report |
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| EGAF00000075050 | bam | 8.7 GB | Report |
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| EGAF00000075052 | bam | 4.2 GB | Report |
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| EGAF00000075053 | bam | 4.5 GB | Report |
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| EGAF00000075055 | bam | 7.1 GB | Report |
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| EGAF00000075060 | bam | 7.8 GB | Report |
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| EGAF00000075068 | bam | 7.4 GB | Report |
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| 24 Files (140.5 GB) | ||||