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As mentioned in #21, we will be having a short one-day meeting on this competition, partly in order to see what went wrong/right, and partly to discuss this area of science in more depth.
This Issu…
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Please consider adding a term for
Distal duplication 11q syndrome
See ORPHA:96103 https://www.orpha.net/en/disease/detail/96103
Reference set from the Orphanet record https://pubmed.ncbi.nlm.nih…
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Some use cases:
1) recording the measurement process for a specific trait.
2) recording the methods used to elicit a finding (ie: in-situ hybridization assay was used in a gene expression study)
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### Description
With the introduction of support for session-level data, there are some restrictions and quirks concerning how participant & session IDs are treated by Neurobagel, which are not well …
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Status: ACTIVE
Platform contact; TBD
Researcher contact: TBD (will ask Matt Wheeler)
Next steps: requires moving BAM files into AWS hot storage at SRA for DRS accessibility. This use case also re…
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Hi,
I am processing 550 files from a Q-Exactive lipidomics experiment where data dependent MS/MS data was collected. I only want to use the MS1 data to generate a peak area data matrix. I have conv…
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Hi all,
I ran MTAG for 6 traits. The summary statistics were from GWAS using mixed models. Trait 5 was categorical, and all others continuous. To run MTAG, I converted the z score of trait 5 to …
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The HpoDisease class now has a TermWithFrequency object.
However,there are many other modifiers that a term can have including onset and any of the terms from the Clinical Modifier hierarchy.
It wou…
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We should name the HTTP endpoints for methods after the method names themselves, instead of nesting them in a REST-like hierarchy. Our API consists of POSTing lots of request objects, which isn't very…
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Integration of lists with information about chromosomal segments (including several genes e.g., ”chr22: 19,037,148 - 21,228,744”) for use in Scout in the same manner as we use gene lists. This is esse…