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Hi Daniel,
My question concerns the benchmarking data sets in Fig. 3 of the paper "Systematic integration of biomedical knowledge prioritizes drugs for repurposing". Are those available for download?…
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The basic idea of 'synonymization' is to handle the fact that that the same concept can have different identifiers in different systems. A disease can have a mondo and a doid and a umls, but all be (…
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This issue contains monthly updates to an automatically ranked list of PubMed papers as candidates for curation in the Bioregistry. Papers may be relevant in at least three ways:
(1) as a new prefix…
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Consider adding a class labeled ‘diagnostic criteria’ to represent specific
sets of criteria that are agreed upon by the medical community to be sufficient
and/or necessary conditions for diagno…
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While checking for precedents for issue #69 (drug substances: NE vs. concept) I noticed a general annotation inconsistency regarding diseases:
- _cancer_ is always annotated as a regular concept
- _AI…
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I found the following strange issue by chance: searching for 'Alzheimer disease' (umls cui C0002395). The 'targets4disease:list' api returns correctly the associated gene (ncbigene:100130988) but not …
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Hi.
In your publication :"Analysis of Alzheimer’s disease scRNA-seq data. The MARS-seq scRNA-seq raw data were download from GSE9896971. The raw fastq file were modified using custom scripts to embed t…
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Hi @mariam16548
Today let's create a full-chromosome or maybe even whole genome study of a transcription factor (TF) with more length (and thus more binding complexity) that GATA1. We might exp…
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I ran through the [vignette](https://caleblareau.github.io/gchromVAR/articles/gchromVAR_vignette.html) using my scATAC-seq data for the peaks, and I downloaded a fine-mapped posterior-probabilities fo…
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It is not clear what it means or should mean that certain diseases can be selected (eg. Dementia), but that certain others can not be selected (eg. Charcot-Marie...).
Moreover, what the expected beh…