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Activities

Employment (1)

The Jackson Laboratory: Bar Harbor, ME, US

2017-07-19 to present | Software Engineer (Computational Sciences)
Employment
Source: Self-asserted source
Michael A Gargano

Education and qualifications (1)

Northeastern University: Boston, MA, US

2019-05-20 | Masters of Bioinformatics (College of Science)
Education
Source: Self-asserted source
Michael A Gargano

Works (12)

The Human Phenotype Ontology in 2024: phenotypes around the world

Nucleic Acids Research
2024-01-05 | Journal article
Contributors: Michael A Gargano; Nicolas Matentzoglu; Ben Coleman; Eunice B Addo-Lartey; Anna V Anagnostopoulos; Joel Anderton; Paul Avillach; Anita M Bagley; Eduard Bakštein; James P Balhoff et al.
Source: check_circle
Crossref

De novoTRPM3missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy

Molecular Case Studies
2023-12 | Journal article
Contributors: Jagadish Chandrabose Sundaramurthi; Anita M. Bagley; Hannah Blau; Leigh Carmody; Amy Crandall; Daniel Danis; Michael A. Gargano; Anxhela Gjyshi Gustafson; Ellen M. Raney; Mallory Shingle et al.
Source: check_circle
Crossref

The human phenotype ontology in 2021

Nucleic acids research
2021 | Journal article
Source: Self-asserted source
Michael A Gargano

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

2021-01-28 | Preprint
Contributors: Daniel Danis; Julius O.B. Jacobsen; Leigh Carmody; Michael Gargano; Julie A McMurry; Ayushi Hegde; Melissa A Haendel; Giorgio Valentini; Damian Smedley; Peter N Robinson
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Crossref

Interpretable clinical genomics with a likelihood ratio paradigm

The American Journal of Human Genetics
2020 | Journal article
Source: Self-asserted source
Michael A Gargano

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

Nucleic acids research
2020 | Journal article
Source: Self-asserted source
Michael A Gargano

Computational Processing and Quality Control of Hi-C, Capture Hi-C and Capture-C Data

Genes
2019 | Journal article
Source: Self-asserted source
Michael A Gargano

Encoding clinical data with the human phenotype ontology for computational differential diagnostics

Current protocols in human genetics
2019 | Journal article
Source: Self-asserted source
Michael A Gargano

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Nucleic acids research
2019 | Journal article
Source: Self-asserted source
Michael A Gargano

Computational Processing and Quality Control of Hi-C, Capture Hi-C and Capture-C Data

Genes
2019-07-18 | Journal article
Contributors: Peter Hansen; Michael Gargano; Jochen Hecht; Jonas Ibn-Salem; Guy Karlebach; Johannes T. Roehr; Peter N. Robinson
Source: check_circle
Crossref

An online tool for biomarker analysis in Gene Expression Omnibus (GEO) datasets

2016 | Other
Source: Self-asserted source
Michael A Gargano

shinyGEO: a web-based application for analyzing gene expression omnibus datasets

Bioinformatics
2016 | Journal article
Source: Self-asserted source
Michael A Gargano