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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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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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Human Genetics01:28

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Related Experiment Video

Updated: Sep 28, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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A complete reference genome improves analysis of human genetic variation.

Sergey Aganezov1, Stephanie M Yan2, Daniela C Soto3

  • 1Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.

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|March 31, 2022
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Summary

The new Telomere-to-Telomere CHM13 genome reference significantly improves human genetic analysis by adding sequence, correcting errors, and enhancing variant discovery. This advanced reference is poised to supersede GRCh38 for human genetics research.

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Area of Science:

  • Genomics
  • Human Genetics

Background:

  • The human genome reference is crucial for genetic studies.
  • Previous references had limitations in complex and repetitive regions.

Purpose of the Study:

  • To introduce and evaluate the Telomere-to-Telomere CHM13 (T2T-CHM13) genome reference.
  • To demonstrate its improvements over existing references like GRCh38.

Main Methods:

  • The T2T-CHM13 genome assembly was generated.
  • Read mapping and variant calling were performed using T2T-CHM13 on diverse human samples.
  • Performance was compared against the GRCh38 reference.

Main Results:

  • T2T-CHM13 adds ~200 million base pairs and corrects thousands of structural errors.
  • It universally improves read mapping and variant calling across diverse samples.
  • Hundreds of thousands of new variants were identified in previously unresolved regions.
  • Spurious variants, including false positives in medically relevant genes, were significantly reduced.

Conclusions:

  • The T2T-CHM13 reference enhances variant discovery and accuracy in human genetics.
  • It unlocks complex genomic regions for clinical and functional studies.
  • T2T-CHM13 is positioned to replace GRCh38 as the standard human reference genome.