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A DNA sequencer is a scientific instrument used to automate the DNA sequencing process. Given a sample of DNA, a DNA sequencer is used to determine the order of the four bases: G (guanine), C (cytosine), A (adenine) and T (thymine). This is then reported as a text string, called a read. Some DNA sequencers can be also considered optical instruments as they analyze light signals originating from fluorochromes attached to nucleotides.
BGI Group, formerly Beijing Genomics Institute, is a Chinese genomics company with headquarters in Yantian District, Shenzhen. The company was originally formed in 1999 as a genetics research center to participate in the Human Genome Project. It also sequences the genomes of other animals, plants and microorganisms.
DNA sequencing is the process of determining the nucleic acid sequence – the order of nucleotides in DNA. It includes any method or technology that is used to determine the order of the four bases: adenine, guanine, cytosine, and thymine. The advent of rapid DNA sequencing methods has greatly accelerated biological and medical research and discovery.
The Genographic Project, launched on 13 April 2005 by the National Geographic Society and IBM, was a genetic anthropological study that aimed to map historical human migrations patterns by collecting and analyzing DNA samples. The final phase of the project was Geno 2.0 Next Generation. Upon retirement of the site, 1,006,542 participants in over 140 countries had joined the project.
Illumina, Inc. is an American biotechnology company, headquartered in San Diego, California, and it serves more than 140 countries. Incorporated on April 1, 1998, Illumina develops, manufactures, and markets integrated systems for the analysis of genetic variation and biological function. The company provides a line of products and services that serves the sequencing, genotyping and gene expression, and proteomics markets.
Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips, or partial or full genome sequencing. Once the genotypes are known, the individual's variations can be compared with the published literature to determine likelihood of trait expression, ancestry inference and disease risk.
Whole genome sequencing (WGS), also known as full genome sequencing, complete genome sequencing, or entire genome sequencing, is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time. This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast.
The exome is composed of all of the exons within the genome, the sequences which, when transcribed, remain within the mature RNA after introns are removed by RNA splicing. This includes untranslated regions of messenger RNA (mRNA), and coding regions. Exome sequencing has proven to be an efficient method of determining the genetic basis of more than two dozen Mendelian or single gene disorders.
Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome. It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons—humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology.
Robert C. Green is an American medical geneticist, physician, and public health researcher. He directs the Genomes2People Research Program in translational genomics and health outcomes in the Division of Genetics at Brigham and Women's Hospital and the Broad Institute, and is Director of the Preventive Genomics Clinic at Brigham and Women's Hospital. Research led by Green includes clinical and research aspects of genomic and precision medicine, including the development and disclosure of Alzheimer's disease risk estimates and one of the first prospective studies of direct-to-consumer genetic testing services. He has studied the implementation of medical sequencing in healthy adults, newborns, and active duty military personnel. As of 2020, he is leading the first research collaboration to explore return of genomic results and better understand penetrance in a population-based cohort of underrepresented minorities. He has led the Preventive Genomics Clinic at Brigham and Women's Hospital since its creation in 2019.
Gene by Gene is a commercial genetic testing company based in Houston, Texas. The company was owned by Bennett Greenspan and Max Blankfeld, and was the parent company of Family Tree DNA. In January of 2021, Gene by Gene was acquired by US based parent company myDNA Inc. Gene by Gene and Australia company myDNA Life Private Ltd. are both subsidiaries of parent company, myDNA Inc. The current Chief Executive Officer of myDNA Inc. is, Dr Lior Rauchberger.
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Tute Genomics is a genomics startup that provides a cloud-based web application for rapid and accurate annotation of human genomic data. Built on the expertise of ANNOVAR, Tute assists researchers in identifying disease genes and biomarkers, and assists clinicians/labs in performing genetic diagnosis. Based in Provo, Utah, Tute was co-founded by Dr. Kai Wang, an Assistant Professor at the University of Southern California (USC); and Dr. Reid J. Robison, a board-certified psychiatrist with fellowship training in both neurodevelopmental genetics and bioinformatics.
The 100,000 Genomes Project is a now-completed UK Government project managed by Genomics England that is sequencing whole genomes from National Health Service patients. The project is focusing on rare diseases, some common types of cancer, and infectious diseases. Participants give consent for their genome data to be linked to information about their medical condition and health records. The medical and genomic data is shared with researchers to improve knowledge of the causes, treatment, and care of diseases.
Sophia Genetics is a data-driven medicine software company with headquarters in Lausanne, Switzerland and Boston, Massachusetts. It provides genomic and radiomic analysis for hospitals, laboratories, and biopharma institutions. The company was ranked among the 50 smartest companies by the MIT Technology Review in 2017. The company went public on the Nasdaq in 2021, floating at $1.1B.
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Clinical metagenomic next-generation sequencing (mNGS) is the comprehensive analysis of microbial and host genetic material in clinical samples from patients by next-generation sequencing. It uses the techniques of metagenomics to identify and characterize the genome of bacteria, fungi, parasites, and viruses without the need for a prior knowledge of a specific pathogen directly from clinical specimens. The capacity to detect all the potential pathogens in a sample makes metagenomic next generation sequencing a potent tool in the diagnosis of infectious disease especially when other more directed assays, such as PCR, fail. Its limitations include clinical utility, laboratory validity, sense and sensitivity, cost and regulatory considerations.
Helmy Eltoukhy is an American scientist, entrepreneur, and investor best known for his contributions to genomics, semiconductor DNA sequencing, and personalized medicine. The co-founder of startups Avantome and Guardant Health, Eltoukhy was named to Time Magazine’s inaugural 50 Most Influential People in Healthcare (2018) and Fortune’s 40 under 40 (2017). Acquired by Illumina in 2008, Avantome was founded to develop and commercialize semiconductor-based DNA sequencing, during the race for the $1,000 genome. Guardant Health was founded to pioneer non-invasive liquid biopsy approaches for cancer diagnosis, monitoring, personalized medicine treatment, and research.
Personalized genomics is the human genetics-derived study of analyzing and interpreting individualized genetic information by genome sequencing to identify genetic variations compared to the library of known sequences. International genetics communities have spared no effort from the past and have gradually cooperated to prosecute research projects to determine DNA sequences of the human genome using DNA sequencing techniques. The methods that are the most commonly used are whole exome sequencing and whole genome sequencing. Both approaches are used to identify genetic variations. Genome sequencing became more cost-effective over time, and made it applicable in the medical field, allowing scientists to understand which genes are attributed to specific diseases.
MGI or MGI Tech is a Chinese biotechnology company, which provides a line of products and technologies that serves the genetic sequencing, genotyping and gene expression, and proteomics markets. Its headquarters are located in Shenzhen, China.
References
- ↑ "A DNA-testing startup just launched an 'app store' for genetics". Business Insider. Retrieved 2018-01-22.
- ↑ "Helix raises $200 million to grow genomics testing marketplace". MobiHealthNews. 2018-03-01. Retrieved 2018-03-21.
- ↑ "Helix Appoints Former Under Armour Chief Digital Officer and Co-Founder and CEO of MapMyFitness Robin Thurston as Chief Executive Officer" . Retrieved 2018-01-22.
- ↑ Geno 2.0 Next Generation National Geographic. June 28, 2018. Retrieved June 28, 2018.
- ↑ Helix DNA Sequencing and Geno 2.0 Helix. January 26, 2018. Retrieved June 28, 2018.
- ↑ "Helix To Help Expand Healthy Nevada Project - Healthy Nevada". Healthy Nevada. 2018-01-09. Retrieved 2018-01-23.
- ↑ "Genetic data sought from 40,000 more Nevadans in phase 2 of Renown, DRI program" . Retrieved 2018-01-23.
- ↑ "Nevada Project Expands Enrollment, Research Into Genetic Health Risks". GenomeWeb. Retrieved 2018-03-21.
- ↑ "The Science Behind the Genographic Project - National Geographic". Genographic Project. Retrieved 2018-01-23.
- ↑ "Helix's Bold Plan to Be Your One Stop Personal Genomics Shop". WIRED. Retrieved 2018-01-23.
- ↑ "Helix CLIA-Certified DNA Sequencing Laboratory Receives College of American Pathologists (CAP) Accreditation" . Retrieved 2018-01-23.
- ↑ "Whole Exome Sequencing | Detect exonic variants". www.illumina.com. Retrieved 2018-01-23.