Why genome sequencing




















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BaseSpace Sequence Hub and iCredits Data management and simplified bioinformatics for labs getting started and for rapidly scaling next-generation sequencing operations. Whole-Genome Sequencing Data Analysis. Read Article. The Time is Now for Microbiome Studies Whole-genome shotgun sequencing and transcriptomics provide researchers and pharmaceutical companies with data to refine drug discovery and development. Read Interview. NGS is Revealing the Mysterious World of Microbes Researchers are using shotgun metagenomics to improve our understanding of human health, disease, and microbial evolution.

Shortening the Journey to Diagnosis. Learn How. Related Solutions. Cancer Whole-Genome Sequencing Whole-genome sequencing of tumor samples provides a comprehensive view of the unique mutations in cancer tissue, informing analysis of oncogenes, tumor suppressors, and other risk factors. Learn more about cancer WGS.

Microbial Whole-Genome Sequencing This method can be utilized to generate accurate microbial reference genomes, identify novel bacteria and viruses, perform comparative genomic studies, and more. Learn more about microbial WGS. Shotgun Metagenomics This method allows researchers to identify the organisms present in a given complex sample, analyze bacterial diversity, and detect microbial abundance in various environments.

Learn more about metagenomics. Learn more about NIPT. Rare Disease Whole-Genome Sequencing This method can detect multiple variant types in a single assay, and help clinical researchers identify causative genetic variants linked to rare disorders. Learn more about rare disease WGS. Complex Disease Genomics Researchers can utilize WGS and other methods to identify genetic variants associated with complex diseases and characterize disease mechanisms.

Learn more about complex diseases. Additional Tips and Training Opportunities. The bases are identified by measuring differences in their effect on ions and electrical current flowing through the pore. Using nanopores to sequence DNA offers many potential advantages over current methods.

The goal is for sequencing to cost less and be done faster. Unlike sequencing methods currently in use, nanopore DNA sequencing means researchers can study the same molecule over and over again. Researchers now are able to compare large stretches of DNA - 1 million bases or more - from different individuals quickly and cheaply. Such comparisons can yield an enormous amount of information about the role of inheritance in susceptibility to disease and in response to environmental influences.

In addition, the ability to sequence the genome more rapidly and cost-effectively creates vast potential for diagnostics and therapies. Although routine DNA sequencing in the doctor's office is still many years away, some large medical centers have begun to use sequencing to detect and treat some diseases. KRISP and CERI do genomic sequencing for many African countries, but we also share all our protocols with countries, as well as offering to train technicians to boost their capacity.

Malawi recently sent a couple of technicians to our facilities to learn, and within a week of their return, the country already started producing its own data.

Another example is Uganda which has been sequencing a lot with Oxford Nanopore Technologies, but the country recently sent two senior scientists to our lab to learn about Illumina sequencing. Now there are two different platforms that are established in the country. The truth is that no national public institute of health can manage on their own.

By having a system involving academic organizations and private sector, countries can tap into a bountiful network of facilities that already exists.

This is something we implement in South Africa which we picked up from the United Kingdom. It has proven to be highly efficient and effective. Partnerships at the regional level are also very important. There are three tiers of laboratory networks being developed in the Region. African countries should make efforts to be as active as possible at all three levels. This not only boosts genomic sequencing data but really facilitates the transfer of knowledge and training — which is important for sustainability.

Communication between countries is also extremely important. There is a wealth of experiences, knowledge and capacity across Africa.



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