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| Company type | Public |
|---|---|
| Nasdaq: SOPH | |
| Industry | Software Cloud computing |
| Founded | 2011 |
| Founders |
|
| Headquarters | |
Key people | |
| Services | Sophia DDM Platform |
Number of employees | 400+ |
| Website | sophiagenetics |
Sophia Genetics SA is a data-driven medicine software company with headquarters in Lausanne, Switzerland and Boston, Massachusetts. [2] [3] [4] [5] It provides genomic and radiomic analysis for hospitals, laboratories, and biopharma institutions. [6] [7]
Sophia Genetics was co-founded by Jurgi Camblong, Pierre Hutter, and Lars Steinmetz in 2011 as a start-up at École Polytechnique Fédérale de Lausanne (EPFL). It began as a research tool for hospitals and federally regulated health care labs, and then expanded to biopharma institutions. [8]
In 2014, the company introduced an analytical software platform, the Sophia DDM Platform (Data-Driven Medicine), [9] [10] which helps to interpret circulating tumor DNA and circulating tumour cells in blood, urine, cerebral spinal fluid and other liquid samples. [11] The platform is used for oncology, hereditary cancers, metabolic disorders, pediatrics, cardiology, and for rare disease research. [11]
In 2018, the company set up its first research and development center in France and made acquisition of a France-based molecular biology and genetic analytics software development company, Interactive Biosoftware. [12] [13] That same year, Sophia Genetics opened its U.S. headquarters in Boston, Massachusetts. [14]
In August 2020, the company released a data analysis solution that was focused on predicting the disease evolution of the SARS-CoV-2 virus. [15] Also in 2022, the firm began development of a new method for detecting extrachromosomal DNA through collaboration with startup firm Boundless Bio. [1]
In July 2021, Sophia Genetics went public with an IPO backed by J.P. Morgan, Morgan Stanley, and Credit Suisse. [16] [17]
In 2016, Sophia Genetics entered into a comarketing agreement with Illumina allowing the two companies to promote adoption of next- generation DNA sequencing. [18]
In 2019, Sophia Genetics formed partnerships with Integrated DNA Technologies and Paragon Genomics, next-generation sequencing (NGS) assay development company, to provide COVID-19 test kits [19] [20]
In 2021, the company partnered with MGI, a subsidiary of BGI Group, to enable their users to access the SOPHiA DDM Platform for data analysis and interpretation. [21] In March 2021, Sophia Genetics announced a long-term collaboration agreement with Hitachi. [22]
In 2022, the firm committed to a collaboration with Memorial Sloan Kettering Cancer Center to advance predictive tumor analysis and, more broadly, clinical decision support. [1]
Genomics is an interdisciplinary field of molecular biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dimensional structural configuration. In contrast to genetics, which refers to the study of individual genes and their roles in inheritance, genomics aims at the collective characterization and quantification of all of an organism's genes, their interrelations and influence on the organism. Genes may direct the production of proteins with the assistance of enzymes and messenger molecules. In turn, proteins make up body structures such as organs and tissues as well as control chemical reactions and carry signals between cells. Genomics also involves the sequencing and analysis of genomes through uses of high throughput DNA sequencing and bioinformatics to assemble and analyze the function and structure of entire genomes. Advances in genomics have triggered a revolution in discovery-based research and systems biology to facilitate understanding of even the most complex biological systems such as the brain.
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, 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.
deCODE genetics is a biopharmaceutical company based in Reykjavík, Iceland. The company was founded in 1996 by Kári Stefánsson with the aim of using population genetics studies to identify variations in the human genome associated with common diseases, and to apply these discoveries "to develop novel methods to identify, treat and prevent diseases."
Personalized medicine, also referred to as precision medicine, is a medical model that separates people into different groups—with medical decisions, practices, interventions and/or products being tailored to the individual patient based on their predicted response or risk of disease. The terms personalized medicine, precision medicine, stratified medicine and P4 medicine are used interchangeably to describe this concept, though some authors and organizations differentiate between these expressions based on particular nuances. P4 is short for "predictive, preventive, personalized and participatory".
Illumina, Inc. is an American biotechnology company, headquartered in San Diego, California. 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, and serves more than 155 countries.
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) 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.
John Quackenbush is an American computational biologist and genome scientist. He is a professor of biostatistics and computational biology and a professor of cancer biology at the Dana–Farber Cancer Institute (DFCI), as well as the director of its Center for Cancer Computational Biology (CCCB). Quackenbush also holds an appointment as a professor of computational biology and bioinformatics in the Department of Biostatistics at the Harvard School of Public Health.
The $1,000 genome refers to an era of predictive and personalized medicine during which the cost of fully sequencing an individual's genome (WGS) is roughly one thousand USD. It is also the title of a book by British science writer and founding editor of Nature Genetics, Kevin Davies. By late 2015, the cost to generate a high-quality "draft" whole human genome sequence was just below $1,500.
DNAnexus is an American company that provides a cloud-based data analysis and management platform for DNA sequence data. It is based in Mountain View, California, and was founded in 2009 by Stanford University professors Serafim Batzoglou and Arend Sidow and Stanford computer scientist Andreas Sundquist.
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.
Macrogen, Inc. is a South Korean public biotechnology company. The company's headquarters are located in Seoul. The company was founded in 1997 by Jeong-sun Seo, a professor at Seoul National University. It was venture capital-backed until its initial public offering (IPO) and subsequent listing on the KOSDAQ market in 2000, making it the first Korean biotechnology firm to raise funds through an IPO. The company announced plans in 2010 to map the "Korean genome" based on the notion that United States-backed genome mapping efforts up to that time were representative of the "Caucasian genome" rather than the "Human genome" as claimed. By 2015, the company was described by one news outlet as "a global leader in personalized genomic medicine".
PrecisionFDA is a secure, collaborative, high-performance computing platform that has established a growing community of experts around the analysis of biological datasets in order to advance precision medicine, inform regulatory science, and enable improvements in health outcomes. This cloud-based platform is developed and served by the United States Food and Drug Administration (FDA). PrecisionFDA connects experts, citizen scientists, and scholars from around the world and provides them with a library of computational tools, workflow features, and reference data. The platform allows researchers to upload and compare data against reference genomes, and execute bioinformatic pipelines. The variant call file (VCF) comparator tool also enables users to compare their genetic test results to reference genomes. The platform's code is open source and available on GitHub. The platform also features a crowdsourcing model to sponsor community challenges in order to stimulate the development of innovative analytics that inform precision medicine and regulatory science. Community members from around the world come together to participate in scientific challenges, solving problems that demonstrate the effectiveness of their tools, testing the capabilities of the platform, sharing their results, and engaging the community in discussions. Globally, precisionFDA has more than 5,000 users.
Michael Paul Snyder is an American genomicist, a Stanford School of Medicine professor, and chair of genetics and director of genomics and personalized medicine at Stanford University.
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Guardant Health, Inc. is an American biotechnology company based in Palo Alto, California. Co-founders Helmy Eltoukhy and AmirAli Talasaz serve as co-chief executive officers.
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