Improvements and impacts of GRCh38 human reference on high throughput sequencing data analysis.
1Department of Cancer Biology, Vanderbilt University, Nashville, TN, USA.
Genomics
|January 30, 2017
Summary
The latest human reference genome, GRCh38, provides more accurate high-throughput sequencing data analysis than GRCh37. This update reduces false positive structural variants, leading to more reliable genomic insights.
Area of Science:
- Genomics
- Bioinformatics
- Computational Biology
Background:
- High-throughput sequencing data analysis relies on accurate reference genomes.
- Previous human reference genome releases have progressively improved accuracy and completeness.
- The impact of the GRCh38 reference genome on sequencing data analysis accuracy was not yet quantified.
Purpose of the Study:
- To quantitatively compare genomic analysis results using GRCh38 versus GRCh37.
- To assess the impact of GRCh38 on various genomic analysis types, including variant calling.
Main Methods:
- Comparative analysis of sequencing data aligned to GRCh38 and GRCh37.
- Evaluation of alignment accuracy, single nucleotide polymorphism (SNP) and small insertion/deletion (indel) calling.
- Assessment of copy number and structural variant detection accuracy.
Main Results:
- GRCh38 demonstrates improved accuracy across multiple genomic analysis types compared to GRCh37.
- GRCh38 significantly reduces the number of false positive structural variants detected.
- Alignment and variant calling show enhanced reliability with the GRCh38 reference genome.
Conclusions:
- GRCh38 represents a significant advancement over GRCh37 for human reference genome assembly.
- The GRCh38 reference genome yields more accurate and reliable results for high-throughput sequencing data analysis.
- Utilizing GRCh38 is recommended for improved precision in genomic research and clinical applications.
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