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What is Variation?

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Apart from the measures of central tendency, distribution, outliers, and the changing characteristics of data with time, an important characteristic of any data set is its variation or spread. In some data sets, the data values are concentrated closely near the mean; in others, the data values are more widely spread out from the mean.
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Related Experiment Video

Updated: Aug 10, 2025

Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances

Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances

Published on: October 11, 2018

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.

Research Square

|February 13, 2023

Summary

This summary is machine-generated.

A large catalog of 355,667 structural variants (SVs) from diverse populations was created. These SVs show links to cardio-metabolic and hematologic diseases, aiding future research.

Keywords:

NGS Population Structural Variants TOPMed

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Last Updated: Aug 10, 2025

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Published on: October 11, 2018

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Published on: April 4, 2018

Area of Science:

Genomics
Human Genetics
Bioinformatics

Background:

Structural variants (SVs) are crucial for understanding human diversity and disease.
Accurate and comprehensive SV identification from DNA sequencing data is challenging.

Approach:

Generated a catalog of 355,667 SVs (≥50bp) from 138,134 individuals in the TOPMed consortium.
Employed advanced methodologies for SV inference, achieving high variant quality and >90% allele concordance with long-read assemblies.
Identified SV hotspots, deserts, and regulatory impacts on medically relevant genes.

Key Points:

The catalog includes 59.34% novel SVs across autosomes and the X chromosome.
Demonstrated significant associations between SVs and cardio-metabolic/hematologic traits.
Characterized 690 SV hotspots and deserts.

Conclusions:

This comprehensive SV catalog from a diverse population is a valuable resource for disease research.
Facilitates understanding the role of SVs in disease development and progression.
Enables further investigation into the functional impact of SVs on gene regulation.