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Related Concept Videos

Genomics02:02

Genomics

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Evolutionary Relationships through Genome Comparisons02:54

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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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Accessing clinical-grade genomic classification data through the ClinGen Data Platform.

Karen P Dalton1, Heidi L Rehm, Matt W Wright

  • 1Department of Biomedical Data Science, Stanford University, Stanford, CA, USA.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
|December 21, 2022
PubMed
Summary
This summary is machine-generated.

The Clinical Genome Resource (ClinGen) developed a Data Platform to share gene and variant clinical relevance findings. This platform features accessible curation tools and standardized data models for the scientific community.

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Area of Science:

  • Genomics and Bioinformatics
  • Clinical Relevance of Genes and Variants
  • Data Curation and Dissemination

Background:

  • The Clinical Genome Resource (ClinGen) is a key resource for understanding the clinical significance of genes and genetic variants.
  • Effective curation and dissemination of this information are crucial for advancing genomic medicine.
  • Existing informatics resources needed standardization to support community-wide access and collaboration.

Purpose of the Study:

  • To present the ClinGen Data Platform, an informatics infrastructure designed to support gene and variant curation.
  • To demonstrate the platform's publicly available resources, including curation interfaces, supporting infrastructure, and data models.
  • To facilitate the dissemination of curated clinical relevance findings to the broader scientific and clinical community.

Main Methods:

  • Development of a Data Platform integrating standardized data models.
  • Implementation of curation interfaces such as the Variant Curation Interface (CIViC).
  • Establishment of supporting infrastructure including the Allele Registry and Genegraph.
  • Adoption of data models like SEPIO, GA4GH VRS, and VA for data standardization.

Main Results:

  • A functional Data Platform is now available, providing access to curated genomic and variant information.
  • Publicly accessible resources, including CIViC, Allele Registry, and Genegraph, are operational.
  • Standardized data models (SEPIO, GA4GH VRS, VA) are integrated to ensure data consistency and interoperability.

Conclusions:

  • The ClinGen Data Platform effectively supports and disseminates findings on the clinical relevance of genes and variants.
  • The developed informatics resources enhance data curation efforts and community engagement in genomic medicine.
  • Standardized data models and accessible tools promote consistent and reliable use of genomic information.