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5 results for “Phenopackets”
Phenopackets for case reports of structural variants
<p>A collection of 188 published deleterious structural variants based on 182 cases published in 146 clinical case reports that describe individuals with Mendelian diseases.</p>
384 Phenopackets
<p>GA4GH Phenopackets (https://github.com/phenopackets/phenopacket-schema) representing 384 individuals described in published case reports with Human Phenotype Ontology terms and causal genetic variants.</p>
Example phenopacket containing one disease and two associations
<p>This is an example of a nascent exchange format "Phenopacket". For more information, see github.com/phenopackets</p>
Synthetic phenopacket data from HPOA from 2023-12-22 using phenotype2phenopacket
<p>Generated from phenotype2phenopacket commit 37f45b6 on or around Dec 22, 2023 like so:</p> <p>git clone https://github.com/yaseminbridges/phenotype2phenopacket.git</p> <p>git checkout 37f45b6</p> <p>wget http://purl.obolibrary.org/obo/hp/hpoa/phenotype.hpoa</p> <p>poetry install </p> <div> <div> <div> <div>p2p create --phenotype-annotation ./phenotype.hpoa --output-dir test_ppk</div> </div> </div> </div> <p> </p>
Supplemental data: Benchmarking of Exomiser and seven LLMs (GPT o1 preview, GPT o1 mini, GPT-4o, Gemini Flash 2.0, Meditron-70B, Meditron3-70B, and Medfound-175B) for differential diagnosis using phenopackets
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.