Extensive sequencing of seven human genomes to characterize benchmark reference materials

Area of Science:

• Genomics
• Bioinformatics
• Molecular Biology

Background:

• The Genome in a Bottle Consortium, hosted by the National Institute of Standards and Technology (NIST), is developing reference materials and data for human genome sequencing.
• Accurate genome comparison and benchmarking are crucial for advancing genomic research and clinical applications.

Purpose of the Study:

• To describe a comprehensive dataset of human genome sequencing from a diverse set of individuals.
• To provide a benchmark dataset for evaluating and improving various genome sequencing technologies and analysis methods.

Main Methods:

• Sequencing data was generated for seven human genomes using 12 different technologies, including long-read and short-read platforms.
• The dataset includes data from five NIST Reference Materials, the pilot genome NA12878 (NIST RM 8398), and two Personal Genome Project trios (Ashkenazim Jewish and Chinese ancestry).
• Technologies employed include BioNano Genomics, Complete Genomics, Ion Proton, Oxford Nanopore, Pacific Biosciences, SOLiD, 10X Genomics, and Illumina.

Main Results:

• A large and diverse set of human genome sequencing data is now available.
• The data encompasses multiple sequencing technologies, providing a rich resource for comparative analysis.
• Public availability of cell lines, DNA, and data facilitates widespread research use.

Conclusions:

• The generated dataset is expected to yield novel insights into the human genome.
• This resource will aid in the improvement of sequencing technologies and analytical pipelines.
• The data will enhance the accuracy of single nucleotide polymorphism (SNP), indel, and structural variant calling, as well as de novo assembly.