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Related Concept Videos

Mouse Models of Cancer Study02:43

Mouse Models of Cancer Study

Mice have long served as models for studying human biology and pathology because of their phylogenetic and physiological similarity with humans. They are also easy to maintain and breed in the laboratory, and hence, many inbred strains are now available for research. Studies on mice have contributed immeasurably to our understanding of cancer biology.
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...

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MVAR: A Mouse Variation Registry.

Bahá El Kassaby1, Francisco Castellanos1, Matthew Gerring1

  • 1The Jackson Laboratory, Bar Harbor, ME, USA.

Journal of Molecular Biology
|March 8, 2024
PubMed
Summary

The Mouse Variation Registry (MVAR) provides a comprehensive database of mouse genetic variations, including single nucleotide variants and small indels. This resource facilitates research by offering unique identifiers and detailed annotations for over 99 million variants across 581 mouse strains.

Keywords:
Mouse genome variationcanonicalizationrelational databaseshort genetic variantsvariant annotation

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Area of Science:

  • Genetics
  • Bioinformatics
  • Genomics

Background:

  • Mouse genetic variation is crucial for understanding disease and developing targeted therapies.
  • Efficiently cataloging and annotating these variations is essential for research reproducibility and discovery.

Purpose of the Study:

  • To establish a scalable and comprehensive registry for mouse single nucleotide variants and small indels.
  • To provide standardized variant annotation and unique identifiers for mouse genetic variations.

Main Methods:

  • Data submission in Variant Call Format (VCF) with a canonicalization process to ensure variant uniqueness.
  • Annotation of variants using Ensembl's Variant Effect Predictor (VEP) and Jannovar for molecular consequence and impact.
  • Development of an Application Programming Interface (API) and web application for data access and searching.

Main Results:

  • The Mouse Variation Registry (MVAR) currently contains over 99 million canonical single nucleotide variants.
  • Data encompasses variations from 581 different mouse strains.
  • Comprehensive annotations include variant type, molecular consequence, impact, and genomic region.

Conclusions:

  • MVAR serves as a vital, scalable resource for researchers studying mouse genetic variation.
  • The registry enhances discoverability and usability of mouse variant data through standardized annotations and accessible search functionalities.