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  • Jackson Laboratory for Genomic Medicine
  • Farmington, CT, USA

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@monarch-initiative @Human-Phenotype-Ontology @heliumdatacommons
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Pinned

  1. Annotation of VCF variants with functional impact and from databases (executable+library)

    Java 41 34

  2. ExomiserSim Public

    Simulate Exomiser Runs

    Java

  3. phenotools Public

    Validation of phenopackets in C++

    C++ 1

2,932 contributions in the last year

May Jun Jul Aug Sep Oct Nov Dec Jan Feb Mar Apr May Mon Wed Fri

Contribution activity

May 2022

Created a pull request in phenopackets/phenopacket-tools that received 1 comment

glaucoma example framework

I created a framework for the glaucoma example

+34 −0 1 comment
Opened 8 other pull requests in 4 repositories
monarch-initiative/SLDBGen 3 merged
TheJacksonLaboratory/isopret 3 merged
monarch-initiative/pyrophen 1 merged
phenopackets/phenopacket-tools 1 merged

Created an issue in obophenotype/human-phenotype-ontology that received 3 comments

Sparse and thin eyebrow

HPO term Reason for deprecation bundled term Suggested replacement or term to consider

3 comments
72 contributions in private repositories May 1 – May 18

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