vocabulary:
  name: Regeneron Pharmaceuticals Vocabulary
  description: >-
    Domain vocabulary for Regeneron Pharmaceuticals, a leading biotechnology
    company specializing in large molecule medicines and the use of human
    genetics to discover and validate drug targets. Covers genomics, drug
    development, therapeutic areas, and the Regeneron Genetics Center open-source
    bioinformatics toolset.
  version: 1.0.0
  created: '2026-05-02'
  modified: '2026-05-02'
  source: https://www.regeneron.com

terms:
  - term: Regeneron Genetics Center (RGC)
    definition: >-
      A wholly owned subsidiary of Regeneron that has sequenced over 3 million
      human exomes and phenotyped them against electronic health record data to
      discover and validate drug targets at scale. The RGC is one of the largest
      human genetics sequencing programs in the world.
    tags:
      - Research Unit
      - Genomics

  - term: Exome Sequencing
    definition: >-
      The selective sequencing of all protein-coding regions of the genome
      (the exome), which represents approximately 1-2% of the total genome
      but contains most known disease-causing variants. The RGC uses whole
      exome sequencing (WES) as its primary sequencing modality.
    tags:
      - Genomics
      - Technology

  - term: Genome-Wide Association Study (GWAS)
    definition: >-
      A statistical study of genetic variants across many individuals to identify
      associations between specific genetic variants and disease traits or drug
      responses. RGC uses regenie software for large-scale GWAS on its exome
      cohort.
    tags:
      - Genomics
      - Research Method

  - term: regenie
    definition: >-
      An open-source C++ program developed by the Regeneron Genetics Center for
      whole genome regression modelling of large GWAS. Supports quantitative and
      binary traits, gene/region-based tests, and interaction tests. Available at
      https://github.com/rgcgithub/regenie.
    tags:
      - Open Source
      - Bioinformatics Tool

  - term: CLAMMS
    definition: >-
      Copy number variant detection tool for whole-exome sequencing data developed
      by the Regeneron Genetics Center. CLAMMS is scalable to large cohorts and
      detects both common and rare CNVs. Available on GitHub under regeneron-mpds.
    tags:
      - Open Source
      - Bioinformatics Tool

  - term: TCRAI
    definition: >-
      T Cell Receptor Analysis and Integration tool developed by Regeneron for
      multiplexed dextramer mapping and prediction of T cell receptor sequences
      to antigen specificity. Available at github.com/regeneron-mpds/TCRAI.
    tags:
      - Open Source
      - Immunology Tool

  - term: Therapeutics
    definition: >-
      Regeneron's approved medicine portfolio including Dupixent (dupilumab) for
      atopic dermatitis and asthma, Eylea (aflibercept) for wet AMD and diabetic
      eye disease, Kevzara (sarilumab) for rheumatoid arthritis, Libtayo
      (cemiplimab) for skin cancers, and Praluent (alirocumab) for high cholesterol.
    tags:
      - Product
      - Medicine

  - term: VelociGene
    definition: >-
      Regeneron's proprietary genetic engineering technology platform for creating
      genetically modified mice and other organisms for drug target validation and
      disease model generation.
    tags:
      - Technology Platform
      - Research

  - term: VelocImmune
    definition: >-
      Regeneron's proprietary mouse technology platform that produces fully human
      antibodies by replacing mouse antibody genes with human equivalents, enabling
      rapid generation of fully human therapeutic antibodies.
    tags:
      - Technology Platform
      - Antibody

  - term: Monoclonal Antibody
    definition: >-
      A type of biologic drug produced by identical immune cells and targeting a
      specific antigen. Regeneron specializes in fully human monoclonal antibodies
      generated through the VelocImmune platform.
    tags:
      - Drug Modality
      - Biologic

  - term: TriNetX Collaboration
    definition: >-
      Regeneron's strategic collaboration with TriNetX to link RGC genomic and
      proteomic data with de-identified electronic health records of approximately
      300 million patients for drug discovery and development research.
    tags:
      - Partnership
      - Data

  - term: Electronic Health Record (EHR) Linkage
    definition: >-
      The process of connecting genomic sequencing data with de-identified patient
      health records to correlate genetic variants with clinical phenotypes,
      diagnoses, and treatment outcomes at population scale.
    tags:
      - Research Method
      - Data

  - term: Copy Number Variant (CNV)
    definition: >-
      A structural genomic variant where segments of the genome are repeated or
      deleted relative to the reference genome. CNVs range from kilobases to
      megabases in size and can affect gene dosage and expression.
    tags:
      - Genomics
      - Variant Type

  - term: GWAS Summary Statistics
    definition: >-
      Published statistical outputs from genome-wide association studies including
      per-variant effect sizes, standard errors, and p-values. RGC frequently
      deposits summary statistics to public repositories to advance the field.
    tags:
      - Data
      - Research Output