Related Research Articles
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.
A microsatellite is a tract of repetitive DNA in which certain DNA motifs are repeated, typically 5–50 times. Microsatellites occur at thousands of locations within an organism's genome. They have a higher mutation rate than other areas of DNA leading to high genetic diversity. Microsatellites are often referred to as short tandem repeats (STRs) by forensic geneticists and in genetic genealogy, or as simple sequence repeats (SSRs) by plant geneticists.
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.
Functional genomics is a field of molecular biology that attempts to describe gene functions and interactions. Functional genomics make use of the vast data generated by genomic and transcriptomic projects. Functional genomics focuses on the dynamic aspects such as gene transcription, translation, regulation of gene expression and protein–protein interactions, as opposed to the static aspects of the genomic information such as DNA sequence or structures. A key characteristic of functional genomics studies is their genome-wide approach to these questions, generally involving high-throughput methods rather than a more traditional "candidate-gene" approach.
Oncogenomics is a sub-field of genomics that characterizes cancer-associated genes. It focuses on genomic, epigenomic and transcript alterations in cancer.
Mark Bender Gerstein is an American scientist working in bioinformatics and Data Science. As of 2009, he is co-director of the Yale Computational Biology and Bioinformatics program.
Raúl Rabadán is a Spanish-American theoretical physicist and computational biologist. He is currently the Gerald and Janet Carrus Professor in the Department of Systems Biology, Biomedical Informatics and Surgery at Columbia University. He is the director of the Program for Mathematical Genomics at Columbia University and director of the Center for Topology of Cancer Evolution and Heterogeneity. At Columbia, he has put together a highly interdisciplinary lab with researchers from the fields of mathematics, physics, computer science, engineering, and medicine, with the common goal of solving pressing biomedical problems through quantitative computational models. Rabadan's current interest focuses on uncovering patterns of evolution in biological systems—in particular, viruses and cancer.
The Cancer Genome Atlas (TCGA) is a project to catalogue the genetic mutations responsible for cancer using genome sequencing and bioinformatics. The overarching goal was to apply high-throughput genome analysis techniques to improve the ability to diagnose, treat, and prevent cancer through a better understanding of the genetic basis of the disease.
Takashi Gojobori is a Japanese molecular biologist, Vice-Director of the National Institute of Genetics (NIG) and the DNA Data Bank of Japan (DDBJ) at NIG, in Mishima, Japan. Gojobori is a Distinguished Professor at King Abdullah University of Science and Technology (KAUST) in Thuwal, Saudi Arabia. He is a Professor of Bioscience and Acting Director at the Computational Bioscience Research Center at KAUST.
In the fields of molecular biology and genetics, a pan-genome is the entire set of genes from all strains within a clade. More generally, it is the union of all the genomes of a clade. The pan-genome can be broken down into a "core pangenome" that contains genes present in all individuals, a "shell pangenome" that contains genes present in two or more strains, and a "cloud pangenome" that contains genes only found in a single strain. Some authors also refer to the cloud genome as "accessory genome" containing 'dispensable' genes present in a subset of the strains and strain-specific genes. Note that the use of the term 'dispensable' has been questioned, at least in plant genomes, as accessory genes play "an important role in genome evolution and in the complex interplay between the genome and the environment". The field of study of the pangenome is called pangenomics.
Cancer genome sequencing is the whole genome sequencing of a single, homogeneous or heterogeneous group of cancer cells. It is a biochemical laboratory method for the characterization and identification of the DNA or RNA sequences of cancer cell(s).
Elaine R. Mardis is the co-executive director of the Institute for Genomic Medicine at Nationwide Children's Hospital, where she also serves as the Nationwide Foundation Endowed Chair in Genomic Medicine. She also is professor of pediatrics at the Ohio State University College of Medicine. Mardis’s research focuses on the genomic characterization of cancer and its implications for cancer medicine. She was part of the team that reported the first next-generation-based sequencing of a whole cancer genome, and participated extensively in The Cancer Genome Atlas (TCGA) and the Pediatric Cancer Genome Project (PCGP).
Cancer systems biology encompasses the application of systems biology approaches to cancer research, in order to study the disease as a complex adaptive system with emerging properties at multiple biological scales. Cancer systems biology represents the application of systems biology approaches to the analysis of how the intracellular networks of normal cells are perturbed during carcinogenesis to develop effective predictive models that can assist scientists and clinicians in the validations of new therapies and drugs. Tumours are characterized by genomic and epigenetic instability that alters the functions of many different molecules and networks in a single cell as well as altering the interactions with the local environment. Cancer systems biology approaches, therefore, are based on the use of computational and mathematical methods to decipher the complexity in tumorigenesis as well as cancer heterogeneity.
Alfonso Valencia is a Spanish biologist, ICREA Professor, current director of the Life Sciences department at Barcelona Supercomputing Center. and of Spanish National Bioinformatics Institute (INB-ISCIII). From 2015-2018, he was President of the International Society for Computational Biology. His research is focused on the study of biomedical systems with computational biology and bioinformatics approaches.
Pan-cancer analysis aims to examine the similarities and differences among the genomic and cellular alterations found across diverse tumor types. International efforts have performed pan-cancer analysis on exomes and the whole genomes of cancers, the latter including their non-coding regions. In 2018, The Cancer Genome Atlas (TCGA) Research Network used exome, transcriptome, and DNA methylome data to develop an integrated picture of commonalities, differences, and emergent themes across tumor types.
Tumour heterogeneity describes the observation that different tumour cells can show distinct morphological and phenotypic profiles, including cellular morphology, gene expression, metabolism, motility, proliferation, and metastatic potential. This phenomenon occurs both between tumours and within tumours. A minimal level of intra-tumour heterogeneity is a simple consequence of the imperfection of DNA replication: whenever a cell divides, a few mutations are acquired—leading to a diverse population of cancer cells. The heterogeneity of cancer cells introduces significant challenges in designing effective treatment strategies. However, research into understanding and characterizing heterogeneity can allow for a better understanding of the causes and progression of disease. In turn, this has the potential to guide the creation of more refined treatment strategies that incorporate knowledge of heterogeneity to yield higher efficacy.
Single nucleotide polymorphism annotation is the process of predicting the effect or function of an individual SNP using SNP annotation tools. In SNP annotation the biological information is extracted, collected and displayed in a clear form amenable to query. SNP functional annotation is typically performed based on the available information on nucleic acid and protein sequences.
The human interactome is the set of protein–protein interactions that occur in human cells. The sequencing of reference genomes, in particular the Human Genome Project, has revolutionized human genetics, molecular biology, and clinical medicine. Genome-wide association study results have led to the association of genes with most Mendelian disorders, and over 140 000 germline mutations have been associated with at least one genetic disease. However, it became apparent that inherent to these studies is an emphasis on clinical outcome rather than a comprehensive understanding of human disease; indeed to date the most significant contributions of GWAS have been restricted to the “low-hanging fruit” of direct single mutation disorders, prompting a systems biology approach to genomic analysis. The connection between genotype and phenotype remain elusive, especially in the context of multigenic complex traits and cancer. To assign functional context to genotypic changes, much of recent research efforts have been devoted to the mapping of the networks formed by interactions of cellular and genetic components in humans, as well as how these networks are altered by genetic and somatic disease.
Núria López Bigas is a Spanish biologist and research professor with expertise in medical genetics, computational biology, and bioinformatics. She is an ICREA professor at Pompeu Fabra University and she also leads the Biomedical Genomics Research Group at the Institute for Research in Biomedicine in Barcelona, Spain. Her research is focused on developing computational approaches to investigate cancer genomes.
Kelly A Frazer is a Professor of Pediatrics in the Medical School at the University of California, San Diego, Chief of the Division of Genome Information Sciences and Director of the Institute for Genomic Medicine.
References
- ↑ Koboldt, DC, et al. (2012). "VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing". Genome Research. 22 (3): 568–576. doi: 10.1101/gr.129684.111 . PMC 3290792 . PMID 22300766.
- ↑ Niu, B, et al. (2016). "Protein-structure-guided discovery of functional mutations across 19 cancer types". Nature Genetics. 48 (8): 827–837. doi:10.1038/ng.3586. PMC 5315576 . PMID 27294619.
- ↑ Chen, K, et al. (2009). "BreakDancer: an algorithm for high-resolution mapping of genomic structural variation". Nature Methods. 6 (9): 677–681. doi:10.1038/nmeth.1363. PMC 3661775 . PMID 19668202.
- ↑ "Li Ding, PhD - Biosketch | Washington University in St. Louis". oncology.wustl.edu. Retrieved 2023-05-21.
- ↑ "People". Ding Lab. Retrieved 2023-03-28.
- ↑ Matthews-King, Alex (April 5, 2018). "Major breakthrough in cancer care as gene map paves way for new treatments". The Independent (Online); London London: Independent Digital News & Media– via Proquest.
- ↑ Landgreth, Robert (2013-10-20). "A few mutations drive most cancers". The Olympian. pp. A17. Retrieved 2023-05-21.
| Authority control databases: Academics |
|---|
 | This biography of an academic is a stub. You can help Wikipedia by expanding it. |