Alan H. Beggs

Broad Institute

Public scientific profile · Unclaimed

Built from public scholarly sources. Expertise is inferred by ScienceWe from publications and has not been confirmed by the scientist.

Top expertise

  • Biochemical and Molecular Research

    Solid evidence · 1 supporting paper · latest 2026

  • Genomics and Rare Diseases

    Solid evidence · 2 supporting papers · latest 2026

  • Clinical Reasoning and Diagnostic Skills

    Supporting evidence · 1 supporting paper · latest 2026

  • Genetic Associations and Epidemiology

    Supporting evidence · 1 supporting paper · latest 2026

  • Hereditary Neurological Disorders

    Supporting evidence · 1 supporting paper · latest 2026

  • Chronic Disease Management Strategies

    Supporting evidence · 1 supporting paper · latest 2026

  • Metabolism and Genetic Disorders

    Supporting evidence · 1 supporting paper · latest 2026

  • Mental Health and Psychiatry

    Supporting evidence · 1 supporting paper · latest 2026

Publications (3)

  • Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions

    2026DOI

  • Harmonizing gene nomenclature and disease classification for ADSS1 myopathy

    2026DOI

  • Arriving at a diagnosis: Effective strategies used by the Undiagnosed Diseases Network

    2026DOI

Organizations in sourced records

Affiliation evidence only — not confirmed current employment.

  • Broad Institute

Source: ScienceWe Extractor · retrieved 2026-09-27

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