Nanopore Sequencing in adults with autism spectrum disorder (ASD) without intellectual disability
Nanopore whole-genome sequencing was performed on DNA from peripheral blood samples of 10 individuals with ASD and 10 sex- and age-matched non-autistic controls (NC). DNA preparation and sequencing was performed according to the Oxford Nanopore Technologies (ONT; Oxford, UK) manual “Ligation Sequencing gDNA V14 - human sample (N50 30 kb) on PromethION (SQK-LSK114)” (version GDH_9174_v114_revF_10Nov2022) using ONT R10.4.1 PromethION flow cells. Sequencing was performed on an ONT PromethION 2 Solo using ONT MinKNOW software. Base and modification calling as well as alignment was performed with the ONT dorado basecalling software v0.5.3 using the model dna_r10.4.1_e8.2_400bps_hac@v4.2.0 and flag --modified-bases 5mCG_5hmCG with GenBank GCA_0000001405.15 (GRCh38) as reference sequence. This dataset contains the resulting modBAMs (.bam file format) sorted and indexed using samtools (Danecek et al., 2021) with indexes in bam.bai file format.
- 04/05/2026
- 20 samples
- DAC: EGAC50000000349
- Technology: PromethION
DUO:0000006 version: 2021-02-23
health or medical or biomedical research
This data use permission indicates that use is allowed for health/medical/biomedical purposes; does not include the study of population origins or ancestry.
DUO:0000015 version: 2021-02-23
no general methods research
This data use modifier indicates that use does not allow methods development research (e.g., development of software or algorithms).
DUO:0000018 version: 2021-02-23
not for profit, non commercial use only
This data use modifier indicates that use of the data is limited to not-for-profit organizations and not-for-profit use, non-commercial use.
DUO:0000021 version: 2021-02-23
ethics approval required
This data use modifier indicates that the requestor must provide documentation of local IRB/ERB approval.
DUO:0000022 version: 2021-02-23
geographical restriction
This data use modifier indicates that use is limited to within a specific geographic region.
Policy nCATS
https://ega-archive.org/access/data-access-committee/policy-documentation/
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 |
|---|---|---|
| EGAS50000001736 | Whole Genome Sequencing |
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
i
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|---|---|---|---|---|
| EGAF50000735710 | bai | 30.3 MB |
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| EGAF50000735711 | bam | 72.0 GB |
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| EGAF50000735712 | bai | 35.7 MB |
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| EGAF50000735713 | bam | 88.7 GB |
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| EGAF50000735714 | bai | 56.1 MB |
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| EGAF50000735715 | bai | 52.7 MB |
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| EGAF50000735716 | bai | 47.0 MB |
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| EGAF50000735717 | bai | 55.0 MB |
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| EGAF50000735718 | bam | 142.9 GB |
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| EGAF50000735719 | bam | 128.4 GB |
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| EGAF50000735720 | bai | 33.6 MB |
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| EGAF50000735721 | bai | 56.5 MB |
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| EGAF50000735722 | bam | 85.0 GB |
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| EGAF50000735723 | bai | 40.7 MB |
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| EGAF50000735724 | bai | 47.8 MB |
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| EGAF50000735725 | bai | 50.0 MB |
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| EGAF50000735726 | bai | 46.0 MB |
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| EGAF50000735727 | bai | 56.5 MB |
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| EGAF50000735728 | bai | 63.1 MB |
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| EGAF50000735729 | bam | 170.9 GB |
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| EGAF50000735730 | bai | 42.8 MB |
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| EGAF50000735731 | bai | 58.4 MB |
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| EGAF50000735732 | bam | 155.8 GB |
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| EGAF50000735733 | bam | 111.1 GB |
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| EGAF50000735734 | bai | 62.9 MB |
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| EGAF50000735735 | bai | 50.6 MB |
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| EGAF50000735736 | bam | 173.4 GB |
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| EGAF50000735737 | bam | 127.1 GB |
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| EGAF50000735738 | bai | 59.9 MB |
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| EGAF50000735739 | bai | 58.2 MB |
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| EGAF50000735740 | bam | 154.6 GB |
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| EGAF50000735741 | bam | 162.1 GB |
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| EGAF50000735742 | bam | 119.5 GB |
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| EGAF50000735743 | bam | 135.8 GB |
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| EGAF50000735744 | bam | 149.0 GB |
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| EGAF50000735745 | bam | 152.3 GB |
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| EGAF50000735746 | bam | 141.3 GB |
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| EGAF50000735747 | bam | 138.5 GB |
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| EGAF50000735748 | bam | 139.7 GB |
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| EGAF50000735749 | bam | 105.0 GB |
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| 40 Files (2.7 TB) | ||||