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Updated: Jul 2, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Structural variation across 138,134 samples in the TOPMed consortium.

Goo Jun1, Adam C English2, Ginger A Metcalf2

  • 1Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston.

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|February 7, 2023
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Summary

A new catalog of 355,667 structural variants (SVs) from diverse populations was created. This resource aids in understanding how SVs impact human disease development and progression.

Keywords:
NGSPopulationStructural VariantsTOPMed

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Area of Science:

  • Genomics
  • Human Genetics
  • Bioinformatics

Background:

  • Structural Variants (SVs) are crucial for understanding human genetic diversity and disease links.
  • Accurate identification of SVs from DNA sequencing data presents a significant challenge, requiring a balance between completeness and precision.

Approach:

  • Developed and applied advanced methodologies for Structural Variant (SV) inference across autosomes and the X chromosome.
  • Generated a comprehensive catalog of 355,667 SVs (50bp+) from 138,134 individuals within the Trans-Omics for Precision Medicine (TOPMed) consortium.
  • Validated SV calls with high variant quality and >90% allele concordance against long-read de novo assemblies.

Key Points:

  • The catalog includes 59.34% novel SVs, enhancing the understanding of genetic variation.
  • Identified 690 SV hotspots and deserts, providing insights into genomic regions prone to structural alterations.
  • Demonstrated significant associations between identified SVs and cardio-metabolic and hematologic traits.
  • Highlighted SVs potentially impacting the regulation of medically relevant genes.

Conclusions:

  • The comprehensive SV catalog from the TOPMed consortium is a valuable resource for genetic research.
  • This catalog will advance the understanding of SVs' role in disease development and progression across diverse populations.