Kiko Garcia

Population genetics and precision health research rely on large genomic datasets. Long-read sequencing from Pacific Biosciences and Oxford Nanopore Technologies (ONT) has achieved a level of accuracy and throughput that allows for the progression from single genomes and small populations of individuals to the detection of variation in large-scale populations. Population-scale genomic studies are important, including reflecting the genetic diversity of target populations, detecting challenging genomic regions, serving as a resource for population genetics, translational research, and drug discovery, etc. Overview of population-scale studies using long-read sequencing. (De Coster et al., 2021) Overview Sequencing the deoxyribonucleic acid (DNA) or messenger ribonucleic acid (mRNA) of different individuals in single or multispecies populations (known as population-scale sequencing) is fundamentally aimed at revealing allelic variation in ... Continue reading →

Metagenomics is a powerful and rapidly evolving approach for revealing uncultured microbial diversity and expanding the tree of life, as well as providing new biological insights into microorganisms inhabiting unexplored environments. Methodologically, most of the compositional and functional insights about the microbiome have been obtained based on shotgun metagenome sequencing data. The proliferation of shotgun sequencing data and advances in metagenomic approaches have greatly advanced our understanding of the diversity of microbial life. Next-generation sequencing (NGS) technologies provide huge datasets, and metagenome-assembled genomes (MAGs) have been widely used to unravel the black box of uncultured microbial majorities, providing genome-level insights. However, even high-quality MAGs can be highly fragmented (even worse in complex metageomes) when assembled using traditional short-read assays (e.g., Illumina), resulting in the loss of critical genetic ... Continue reading →