Center For Applied Genomics
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Center For Applied Genomics
The Center for Applied Genomics is a research center at the Children's Hospital of Philadelphia that focuses on genomics research and the utilization of basic research findings in the development of new medical treatments. As one of the world's largest genetics research and analytical facilities, the Center for Applied Genomics has processed genetic samples from over 100,000 people due to its access to high-throughput genotyping technology. The center is focused on detecting the genetic causes of prevalent childhood diseases including asthma, obesity, ADHD, autism, diabetes, inflammatory bowel disease, epilepsy, schizophrenia, and pediatric cancer, all of which are thought to potentially involve multiple, interacting genes within the body. Projects ADHD In 2009, Center for Applied Genomics researchers identified copy number variants (CNVs) as a potential cause of the disorder. Although highly heritable, genetic correlates of attention deficit hyperactivity disorde ...
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Philadelphia
Philadelphia, often called Philly, is the largest city in the Commonwealth of Pennsylvania, the sixth-largest city in the U.S., the second-largest city in both the Northeast megalopolis and Mid-Atlantic regions after New York City. Since 1854, the city has been coextensive with Philadelphia County, the most populous county in Pennsylvania and the urban core of the Delaware Valley, the nation's seventh-largest and one of world's largest metropolitan regions, with 6.245 million residents . The city's population at the 2020 census was 1,603,797, and over 56 million people live within of Philadelphia. Philadelphia was founded in 1682 by William Penn, an English Quaker. The city served as capital of the Pennsylvania Colony during the British colonial era and went on to play a historic and vital role as the central meeting place for the nation's founding fathers whose plans and actions in Philadelphia ultimately inspired the American Revolution and the nation's inde ...
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Genome-wide Association Study
In genomics, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or WGAS), is an observational study of a genome-wide set of Single-nucleotide polymorphism, genetic variants in different individuals to see if any variant is associated with a trait. GWA studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major human diseases, but can equally be applied to any other genetic variants and any other organisms. When applied to human data, GWA studies compare the DNA of participants having varying phenotypes for a particular trait or disease. These participants may be people with a disease (cases) and similar people without the disease (controls), or they may be people with different phenotypes for a particular trait, for example blood pressure. This approach is known as phenotype-first, in which the participants are classified first by their clinical manifestation(s), as oppose ...
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Medical Research Institutes In Pennsylvania
Medicine is the science and practice of caring for a patient, managing the diagnosis, prognosis, prevention, treatment, palliation of their injury or disease, and promoting their health. Medicine encompasses a variety of health care practices evolved to maintain and restore health by the prevention and treatment of illness. Contemporary medicine applies biomedical sciences, biomedical research, genetics, and medical technology to diagnose, treat, and prevent injury and disease, typically through pharmaceuticals or surgery, but also through therapies as diverse as psychotherapy, external splints and traction, medical devices, biologics, and ionizing radiation, amongst others. Medicine has been practiced since prehistoric times, and for most of this time it was an art (an area of skill and knowledge), frequently having connections to the religious and philosophical beliefs of local culture. For example, a medicine man would apply herbs and say prayers for healing, or an ...
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Genetics Or Genomics Research Institutions
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinians, Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Phenotypic trait, Trait inheritance and Molecular genetics, molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the Cell (biolo ...
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Bioinformatics Organizations
Bioinformatics () is an interdisciplinary field that develops methods and software tools for understanding biological data, in particular when the data sets are large and complex. As an interdisciplinary field of science, bioinformatics combines biology, chemistry, physics, computer science, information engineering, mathematics and statistics to analyze and interpret the biological data. Bioinformatics has been used for '' in silico'' analyses of biological queries using computational and statistical techniques. Bioinformatics includes biological studies that use computer programming as part of their methodology, as well as specific analysis "pipelines" that are repeatedly used, particularly in the field of genomics. Common uses of bioinformatics include the identification of candidates genes and single nucleotide polymorphisms (SNPs). Often, such identification is made with the aim to better understand the genetic basis of disease, unique adaptations, desirable properties (esp ...
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Penn Genome Frontiers Institute
The Penn Genome Frontiers Institute, previously known as the Penn Genomics Institute, was established in January 2001 to provide a focus for all aspects of and participants in the genomics community at University of Pennsylvania, Children's Hospital of Philadelphia (CHOP) and the Wistar Institute The Wistar Institute () is an independent, nonprofit research institution in biomedical science, with expertise in oncology, immunology, infectious disease and vaccine research. Located on the campus of the University of Pennsylvania, Wistar was .... References External links * 2001 establishments in Pennsylvania Genetics or genomics research institutions University of Pennsylvania {{genetics-stub ...
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Dolan DNA Learning Center
The DNA Learning Center (DNALC) is a genetics learning center affiliated with the Cold Spring Harbor Laboratory, in Cold Spring Harbor, New York. It is the world's first science center devoted entirely to genetics education and offers online education, class field trips, student summer day camps, and teacher training. The DNALC's family of internet sites cover broad topics including basic heredity, genetic disorders, eugenics, the discovery of the structure of DNA, DNA sequencing, cancer, neuroscience, and plant genetics. The center developed a website called DNA Subway for the iPlant Collaborative. See also * National Centre for Biotechnology Education The National Centre for Biotechnology Education (NCBE) is a national resource centre at the University of Reading to teach pre-university biotechnology in schools in the UK. It was founded in 1990. History It began as the National Centre for Sch ..., UK References External links DNA Learning Center home {{DEFAULTSOR ...
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Single Nucleotide Polymorphisms
In genetics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population (e.g. 1% or more), many publications do not apply such a frequency threshold. For example, at a specific base position in the human genome, the Guanine, G nucleotide may appear in most individuals, but in a minority of individuals, the position is occupied by an Adenine, A. This means that there is a SNP at this specific position, and the two possible nucleotide variations – G or A – are said to be the alleles for this specific position. SNPs pinpoint differences in our susceptibility to a wide range of diseases, for example age-related macular degeneration (a common SNP in the Factor H, CFH gene is associated with increased risk of the disease) or nonalcoholic fatty liver disease (a SNP in the PNPLA3 gene ...
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Microarrays
A microarray is a multiplex lab-on-a-chip. Its purpose is to simultaneously detect the expression of thousands of genes from a sample (e.g. from a tissue). It is a two-dimensional array on a solid substrate—usually a glass slide or silicon thin-film cell—that assays (tests) large amounts of biological material using high-throughput screening miniaturized, multiplexed and parallel processing and detection methods. The concept and methodology of microarrays was first introduced and illustrated in antibody microarrays (also referred to as antibody matrix) by Tse Wen Chang in 1983 in a scientific publication and a series of patents. The "gene chip" industry started to grow significantly after the 1995 ''Science Magazine'' article by the Ron Davis and Pat Brown labs at Stanford University. With the establishment of companies, such as Affymetrix, Agilent, Applied Microarrays, Arrayjet, Illumina, and others, the technology of DNA microarrays has become the most sophisticated and ...
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Affymetrix
Affymetrix is now Applied Biosystems, a brand of DNA microarray products sold by Thermo Fisher Scientific that originated with an American biotechnology research and development and manufacturing company of the same name. The Santa Clara, California-based Affymetrix, Inc. now a part of Thermo Fisher Scientific was co-founded by Alex Zaffaroni and Stephen Fodor. Stephen Fodor and his group, based on their earlier development of methods to fabricate DNA microarrays using semiconductor manufacturing techniques. In 1994, the company's first product under the "GeneChip" Affymetrix trademark, an HIV genotyping chip was introduced, and the company went public in 1996. After incorporation, Affymetrix grew in part by acquiring technologies from other companies, including Genetic MicroSystems (slide-based Microarrays and scanners) and Neomorphic (for bioinformatics) in 2000, ParAllele Bioscience (custom SNP genotyping), USB/Anatrace (biochemical reagents) in 2008, Panomics (low to mid-pl ...
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Genotyping
Genotyping is the process of determining differences in the genetic make-up ( genotype) of an individual by examining the individual's DNA sequence using biological assays and comparing it to another individual's sequence or a reference sequence. It reveals the alleles an individual has inherited from their parents. Traditionally genotyping is the use of DNA sequences to define biological populations by use of molecular tools. It does not usually involve defining the genes of an individual. Techniques Current methods of genotyping include restriction fragment length polymorphism identification (RFLPI) of genomic DNA, random amplified polymorphic detection (RAPD) of genomic DNA, amplified fragment length polymorphism detection (AFLPD), polymerase chain reaction (PCR), DNA sequencing, allele specific oligonucleotide (ASO) probes, and hybridization to DNA microarrays or beads. Genotyping is important in research of genes and gene variants associated with disease. Due to cur ...
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Illumina (company)
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. Illumina's technology had purportedly reduced the cost of sequencing a human genome to by 2014. Its customers include genomic research centers, pharmaceutical companies, academic institutions, clinical research organizations, and biotechnology companies. History Illumina was founded in April 1998 by David Walt, Larry Bock, John Stuelpnagel, Anthony Czarnik, and Mark Chee. While working with CW Group, a venture-capital firm, Bock and Stuelpnagel uncovered what would become Illumina's BeadArray technology at Tufts University and negotiated an exclusive license to that technology. In 1999, Illumin ...
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