Over the past decade, long-read, single-molecule DNA sequencing technologies have emerged as powerful players in genomics. With the ability to generate reads tens to thousands of kilobases in length with an accuracy approaching that of short-read sequencing technologies, these platforms have proven ...
DNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400–800 base pair) reads, but the existence of reference sequences for the human and many other genomes makes it possible to develop n...
Whole genome sequencing (WGS) is the comprehensive read and analysis of an entire genome, including non-coding regions of the genome. WGS is used to facilitate discovery of novel genes and gene variants associated with disease. In the case of human WGS, researchers use WGS to explore gene exp...
In this chapter, we examine the application of metaheuristic algorithms to solve the genome sequencing problem. The chapter presents a detailed description of the problem formulation, describes the metaheuristic algorithms used, discusses preprocessing, and presents the proposed model and its results. ...
Figure 1. Bioinformatics workflow of whole genome sequencing. Raw read QC and preprocessing The relevance of quality control lies in its application to next-generation sequencing (NGS), primarily represented by Illumina, which principally employs the technique of sequencing by synthesis. The fabrication...
It took US$3 billion and 13 years to complete the first human genome sequencing. In 2021, Sichuan University's WCH took a giant next step. Two decades ago, the Human Genome Project (HGP) announced its initial results — the genome sequence and genetic map of the human body. Since then,...
The goal of this work was to investigate the genetics of an acidophilic phenol-degrading yeast strain using whole-genome sequencing (WGS), characterize the growth of the strain and phenol degradation capability as well as degradation pathway under extremely acidic conditions. The result showed that ...
Distilling biologically meaningful information from cancer genome sequencing data requires comprehensive identification of somatic alterations using rigorous computational methods. As the amount and complexity of sequencing data have increased, so has the number of tools for analysing them. Here, we describe...
Pooled CRISPR screening with optical sequencing reveals regulators of 3D chromatin organization The Perturb-Tracing approach represents a significant step forward in our ability to perform pooled loss-of-function perturbations to identify regulators of 3D genome organization across multiple length scales....
Yet for the genomics revolution to realise its potential, plenty more can be done.然而，要让基因组学革命充分发挥潜力，还有许多工作要做。Sequencing has fallen in cost from over $50m a genome at the end of the HGP to a few hundred dollars today, but making it even cheaper and more ...