Two weeks ago there was the announcement from John Marshall from Sanger for SAMtools 1.0 - one of the two most widely used Next Generation Sequencing ( NGS) variant-calling tools embedded in hundreds if not thousands of bioinformatics pipelines worldwide ....
Since the completion of the Human Genome Project, the demand for faster and cheaper sequencing methods has increased exponentially, driving the development of next-generation sequencing (NGS). NGS platforms perform massively parallel sequencing, allowing millions of fragments of DNA from a single sample to be sequenced in unison, facilitating an entire genome to be sequenced in less than a day. The desire to reduce sequencing time and cost is in part influenced by an upcoming era of personalised medicine. This event will discuss the future application of NGS to personalised medicine with foresight coming from leaders in the fields.
Three companies paving the way for the application of NGS to personalized medicine are: Oxford Nanopore Technologies Ltd; Illumina; Premaitha Health. Oxford Nanopore Technologies Ltd has made strides towards the development of devices that will allow a pragmatic approach to the diagnostic stages of personalised medicine. MinION™, which utilises nanopores to analyse single molecules such as DNA, is intended to be disposable and cost less than $900, providing accurate health information in timeframes as short as 15 minutes. Illumina, likewise are engaging the power of NGS in clinical diagnostics with devices, such as the MiSeqDx Instrument, which is the first and only FDA-cleared in vitro diagnostic NGS system and is designed with a clinical environment in mind. Premaitha Health employs next generation DNA analysis technology to develop, manufacture and sell molecular diagnostic products intended to have a major beneficial impact on human health.
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