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Updated: Jan 23, 2026
08:57
Amplicon Sequencing using the Long-Read Sequencing Technologies
Published on: August 29, 2025
517
High-coverage, long-read sequencing of Han Chinese trio reference samples
Ying-Chih Wang1, Nathan D Olson2, Gintaras Deikus1
1Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1 Gustave L Levy Pl, New York, NY, 10029, USA.
Scientific Data
|June 16, 2019
Summary
High-quality, long-read sequencing data from a Han Chinese family trio were generated. This dataset supports the development and evaluation of advanced bioinformatics tools for genomic analysis.
Area of Science:
- Genomics
- Bioinformatics
Background:
- The Genome in a Bottle (GIAB) consortium aims to create high-quality reference genomes.
- Accurate long-read sequencing data is crucial for comprehensive genomic analysis.
Purpose of the Study:
- To generate single-molecule long-read sequencing data for a Han Chinese trio.
- To provide a valuable resource for developing and evaluating long-read bioinformatics methods.
Main Methods:
- Pacific Biosciences Sequel System was used for sequencing.
- Generated datasets include raw reads and alignments to GRCh37/GRCh38.
- Achieved average coverage of 60x for the son and 30x for parents, with N50 subread lengths of 16–18 kb.
Main Results:
- Successfully generated high-coverage long-read sequencing data for a parent-offspring trio.
- Data is publicly available for research and method development.
Conclusions:
- The generated dataset represents a valuable resource for advancing long-read sequencing technologies.
- Facilitates the development of novel bioinformatics tools for genomic variant detection and analysis.
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