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Updated: Jun 8, 2025

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

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利用T2T组件来解决参考基因组间隙中的罕见和病原性逆转

Kristine Bilgrav Saether1,2, Jesper Eisfeldt3,2,4, Jesse D Bengtsson5

  • 1Department of Molecular Medicine and Surgery, Karolinska Institute, 171 76 Stockholm, Sweden.

Genome research
|November 1, 2024
PubMed
概括

检测染色体逆转很困难,但长读基因组测序与T2T-CHM13参考基因组相结合,显著提高了诊断罕见疾病的准确性.

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The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
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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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