Related Experiment Video

Updated: Jun 16, 2025

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

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Toward clinical long-read genome sequencing for rare diseases

Jesper Eisfeldt1,2,3, Marlene Ek1,2, Magnus Nordenskjöld1,2

  • 1Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

Nature Genetics
|May 7, 2025
PubMed
Summary

Long-read whole-genome sequencing (LR-WGS) offers advanced variant detection for rare diseases, surpassing current short-read methods. Further development is needed for its clinical integration.

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