Machine learning algorithm brings long-read sequencing to the clinic

Machine learning algorithm brings long-read sequencing to the clinic

Long-read sequencing technologies analyze long, continuous stretches of DNA. These methods have the potential to improve researchers' ability to detect complex genetic alterations in cancer genomes. However, the complex structure of cancer genomes means that standard analysis tools, including existing methods specifically developed to analyze long-read sequencing data, often fall short, leading to false-positive results and unreliable interpreta…

Systems medicine: the future of medical genomics and healthcare - Genome Medicine

High-throughput technologies for DNA sequencing and for analyses of transcriptomes, proteomes and metabolomes have provided the foundations for deciphering the structure, variation and function of the human genome and relating them to health and disease states. The increased efficiency of DNA sequencing opens up the possibility of analyzing a large number of individual genomes and transcriptomes, and complete reference proteomes and metabolomes …