Since the completion of the Human Genome Project at the turn of the century, the genome sequencing community has achieved sub-$1000 whole genomes and transcriptomes using second generation sequencing, marked by massively parallel sequencing of short genome fragments. Third generation sequencing is marked by long read lengths. The maturation of 3rd generation technologies allows entire chromosomes to be completed telomere-to-telomere, large-scale structural aberrations to be resolved, and complements the limitation of 2nd generation technologies’ short read lengths. High-throughput genome sequencing is rapidly being adapted in clinical settings, and is revolutionizing patient care in a variety of human diseases. The age of Big Genomics is only the beginning. The rate at which sequencing technologies are being developed and adopted in research and clinic setting is increasing exponentially.

The advantage of obtaining massive genome data quickly and cheaply is tempting for any researcher, yet it is no trivial task to extract meaningful biological insight or clinical value in big genomics data. The analysis and interpretation of next generation sequencing (NGS) data, where the dimensions of the genome variables are orders of magnitude greater than study populations, requires new methods and tools be developed. From improving reliability and reproducibility of NGS data to the interpretation of the biological implications, much advances have been made over the past decades by research groups who aim to bring NGS technologies to improve human health. In this issue, we like to present the latest methods and applications of genome technologies that move the field further into the frontiers of science.

This Research Topic welcomes submissions featuring, but not limited to, the following themes:

• Application of state-of-the-art genome technologies and methods to solve biological problems
• Methods to resolve large-scale genomic structures as well as their biological significance that are enabled by third generation technologies.
• Software, algorithm, and methods to analyze and interpret high-throughput genomics data
• Combine and consolidate multi-omics data types from different genomic sequencing platforms to comprehensively analyze and interpret biological data

Dr. Li Tai Fang holds a position of employment at Endpoint Health Inc.
Dr. Lijing Yao holds a position of employment at Endpoint Health Inc.
Dr. Mehdi Pirooznia holds a position of employment at Johnson & Johnson.
Dr. Ruolin Liu holds a patent related to this Research Topic.
Dr. Baoxu Pang holds a patent related to this Research Topic.

Submit your idea

Impact

Frontiers in Molecular Biosciences

Participating Journals

Impact