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Bioinformatics is an interdisciplinary field of science that develops methods and software tools for understanding biological data, especially when the data sets are large and complex. Bioinformatics uses biology, chemistry, physics, computer science, computer programming, information engineering, mathematics and statistics to analyze and interpret biological data. The subsequent process of analyzing and interpreting data is referred to as computational biology.
Genomics is an interdisciplinary field of 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.
Computational biology refers to the use of data analysis, mathematical modeling and computational simulations to understand biological systems and relationships. An intersection of computer science, biology, and big data, the field also has foundations in applied mathematics, chemistry, and genetics. It differs from biological computing, a subfield of computer science and engineering which uses bioengineering to build computers.
Comparative genomics is a field of biological research in which the genomic features of different organisms are compared. The genomic features may include the DNA sequence, genes, gene order, regulatory sequences, and other genomic structural landmarks. In this branch of genomics, whole or large parts of genomes resulting from genome projects are compared to study basic biological similarities and differences as well as evolutionary relationships between organisms. The major principle of comparative genomics is that common features of two organisms will often be encoded within the DNA that is evolutionarily conserved between them. Therefore, comparative genomic approaches start with making some form of alignment of genome sequences and looking for orthologous sequences in the aligned genomes and checking to what extent those sequences are conserved. Based on these, genome and molecular evolution are inferred and this may in turn be put in the context of, for example, phenotypic evolution or population genetics.
Computational genomics refers to the use of computational and statistical analysis to decipher biology from genome sequences and related data, including both DNA and RNA sequence as well as other "post-genomic" data. These, in combination with computational and statistical approaches to understanding the function of the genes and statistical association analysis, this field is also often referred to as Computational and Statistical Genetics/genomics. As such, computational genomics may be regarded as a subset of bioinformatics and computational biology, but with a focus on using whole genomes to understand the principles of how the DNA of a species controls its biology at the molecular level and beyond. With the current abundance of massive biological datasets, computational studies have become one of the most important means to biological discovery.
Anthony James Cuticchia Jr. was an American scientist with expertise in the fields of genetics, bioinformatics, and genomics. In particular, he was responsible for the collection of the data constituting the human gene map, prior to the final sequencing of the genome. He was also a practicing attorney. He died due to cancer on January 6, 2022.
John Frederick William Birney is joint director of EMBL's European Bioinformatics Institute (EMBL-EBI), in Hinxton, Cambridgeshire and deputy director general of the European Molecular Biology Laboratory (EMBL). He also serves as non-executive director of Genomics England, chair of the Global Alliance for Genomics and Health (GA4GH) and honorary professor of bioinformatics at the University of Cambridge. Birney has made significant contributions to genomics, through his development of innovative bioinformatics and computational biology tools. He previously served as an associate faculty member at the Wellcome Trust Sanger Institute.
Mary-Claire King is an American geneticist. She was the first to show that breast cancer can be inherited due to mutations in the gene she called BRCA1. She studies human genetics and is particularly interested in genetic heterogeneity and complex traits. She studies the interaction of genetics and environmental influences and their effects on human conditions such as breast and ovarian cancer, inherited deafness, schizophrenia, HIV, systemic lupus erythematosus and rheumatoid arthritis. She has been the American Cancer Society Professor of the Department of Genome Sciences and of Medical Genetics in the Department of Medicine at the University of Washington since 1995.
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.
A geneticist is a biologist or physician who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a scientist or a lecturer. Geneticists may perform general research on genetic processes or develop genetic technologies to aid in the pharmaceutical or and agriculture industries. Some geneticists perform experiments in model organisms such as Drosophila, C. elegans, zebrafish, rodents or humans and analyze data to interpret the inheritance of biological traits. A basic science geneticist is a scientist who usually has earned a PhD in genetics and undertakes research and/or lectures in the field. A medical geneticist is a physician who has been trained in medical genetics as a specialization and evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations; and provides genetic risk calculations and mutation analysis.
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.
Translational bioinformatics (TBI) is a field that emerged in the 2010s to study health informatics, focused on the convergence of molecular bioinformatics, biostatistics, statistical genetics and clinical informatics. Its focus is on applying informatics methodology to the increasing amount of biomedical and genomic data to formulate knowledge and medical tools, which can be utilized by scientists, clinicians, and patients. Furthermore, it involves applying biomedical research to improve human health through the use of computer-based information system. TBI employs data mining and analyzing biomedical informatics in order to generate clinical knowledge for application. Clinical knowledge includes finding similarities in patient populations, interpreting biological information to suggest therapy treatments and predict health outcomes.
Gary Stormo is an American geneticist and currently Joseph Erlanger Professor in the Department of Genetics and the Center for Genome Sciences and Systems Biology at Washington University School of Medicine in St Louis. He is considered one of the pioneers of bioinformatics and genomics. His research combines experimental and computational approaches in order to identify and predict regulatory sequences in DNA and RNA, and their contributions to the regulatory networks that control gene expression.
Carlos D. Bustamante is an American population geneticist, academic, and entrepreneur. He is currently chief executive officer of Galatea Bio, Inc., a company he founded when a professor at Stanford University School of Medicine.
Marylyn D. Ritchie is a Professor of Genetics, the Director of the Center for Translational Bioinformatics, the Associate Director for Bioinformatics in the Institute for Biomedical Informatics, and the Associate Director of the Center for Precision Medicine, at the University of Pennsylvania's Perelman School of Medicine.
Eran Elhaik is an Israeli-American geneticist and bioinformatician, an associate professor of bioinformatics at Lund University in Sweden and Chief of Science Officer at an ancestry testing company called Ancient DNA Origins owned by Enkigen Genetics Limited, registered in Ireland. His research uses computational, statistical, epidemiological and mathematical approaches to fields such as complex disorders, population genetics, personalised medicine, molecular evolution, genomics, paleogenomics and epigenetics.
Who We Are and How We Got Here is a 2018 book on the contribution of genome-wide ancient DNA research to human population genetics by the geneticist David Reich. He describes discoveries made by his group and others, based on analysis and comparison of ancient and modern DNA from human populations around the world. Central to these is the finding that almost all human populations are mixtures resulting from multiple population migrations and gene flow.
Eleazar Eskin is a computer scientist and geneticist, professor and Chair of the Department of Computational Medicine, and professor of computer science and human genetics at the University of California, Los Angeles. His research focuses on bioinformatics, genomics, and machine learning. A primary research focus is on developing statistical and computational techniques to probe the genetic basis of human disease.
John A. Stamatoyannopoulos a Greek-American physician-scientist in molecular biology and epigenomics. He is a professor of genome sciences and medicine at the University of Washington, where he heads the Stam Lab and led UW Medicine's participation in the ENCODE project. John is the son of Greek geneticist George Stamatoyannopoulos. Stamatoyannopoulos currently serves as scientific director at the Altius Institute for Biomedical Sciences.
Janina M. Jeff is a US-based geneticist and a senior scientist at Illumina. She is specifically interested in identifying genetic variants that explain disease disparities across populations, as well as science communication. She was the first African American to earn a PhD in Human Genetics at Vanderbilt University.
References
- 1 2 3 "447: Dr. Eurie Hong: Using DNA to Decode Family Histories and Genetic Connections". People Behind the Science Podcast. 2018-04-30. Retrieved 2019-06-22.
- 1 2 "Eurie Hong AncestryDNA". PMWC Precision Medicine World Conference. Retrieved 2019-06-22.
- ↑ "Interview with Dr. Eurie Hong, Sacchromyces Genome Database" (PDF). Genetics Society of America. Archived from the original (PDF) on 2019-06-22.
