Itsik Pe'er
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Itsik Pe'er
Itsik Pe'er (Hebrew: איציק פאר) is a computational biologist and a Full Professor in the Department of Computer Science at Columbia University. Research and career Pe'er has created computational tools for the analysis of high-throughput DNA sequence data. In particular, he has developed an approach to map copy number variation from whole exome sequencing data. He has published approaches to quantify hidden relatedness and infer population structure using DNA data. He has conducted studies on the genetics of complex traits in Ashkenazi Jews Ashkenazi Jews ( ; also known as Ashkenazic Jews or Ashkenazim) form a distinct subgroup of the Jewish diaspora, that emerged in the Holy Roman Empire around the end of the first millennium CE. They traditionally speak Yiddish, a language ..., historically a relatively isolated population enabling identification of genetic risk factors for common disorders in all populations. He is generating a comprehensive resource of gen ...
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Systems Biology
Systems biology is the computational modeling, computational and mathematical analysis and modeling of complex biological systems. It is a biology-based interdisciplinary field of study that focuses on complex interactions within biological systems, using a holistic approach (holism instead of the more traditional reductionist, reductionism) to biological research. This multifaceted research domain necessitates the collaborative efforts of chemists, biologists, mathematicians, physicists, and engineers to decipher the biology of intricate living systems by merging various quantitative molecular measurements with carefully constructed mathematical models. It represents a comprehensive method for comprehending the complex relationships within biological systems. In contrast to conventional biological studies that typically center on isolated elements, systems biology seeks to combine different biological data to create models that illustrate and elucidate the dynamic interactions with ...
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Exome Sequencing
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 (known as the exome). 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. The goal of this approach is to identify genetic variants that alter protein sequences, and to do this at a much lower cost than whole-genome sequencing. Since these variants can be responsible for both Mendelian and common polygenic diseases, such as Alzheimer's disease, whole exome sequencing has been applied both in academic research and as a clinical diagnostic. Motivation and comparison to other approaches Exome sequencing is especially effective in t ...
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Columbia University Faculty
Columbia most often refers to: * Columbia (personification), the historical personification of the United States * Columbia University, a private university in New York City * Columbia Pictures, an American film studio owned by Sony Pictures * Columbia Sportswear, an American clothing company * Columbia, South Carolina * Columbia, Missouri Columbia may also refer to: Places North America Natural features * Columbia Plateau, a geologic and geographic region in the U.S. Pacific Northwest * Columbia River, in Canada and the United States ** Columbia Bar, a sandbar in the estuary of the Columbia River ** Columbia Country, the region of British Columbia encompassing the northern portion of that river's upper reaches *** Columbia Valley, a region within the Columbia Country ** Columbia Lake, a lake at the head of the Columbia River *** Columbia Wetlands, a protected area near Columbia Lake ** Columbia Slough, along the Columbia watercourse near Portland, Oregon * Glacial Lake ...
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Living People
Purpose: Because living persons may suffer personal harm from inappropriate information, we should watch their articles carefully. By adding an article to this category, it marks them with a notice about sources whenever someone tries to edit them, to remind them of WP:BLP (biographies of living persons) policy that these articles must maintain a neutral point of view, maintain factual accuracy, and be properly sourced. Recent changes to these articles are listed on Special:RecentChangesLinked/Living people. Organization: This category should not be sub-categorized. Entries are generally sorted by family name In many societies, a surname, family name, or last name is the mostly hereditary portion of one's personal name that indicates one's family. It is typically combined with a given name to form the full name of a person, although several give .... Maintenance: Individuals of advanced age (over 90), for whom there has been no new documentation in the last ten ...
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Year Of Birth Missing (living People)
A year is a unit of time based on how long it takes the Earth to orbit the Sun. In scientific use, the tropical year (approximately 365 solar days, 5 hours, 48 minutes, 45 seconds) and the sidereal year (about 20 minutes longer) are more exact. The modern calendar year, as reckoned according to the Gregorian calendar, approximates the tropical year by using a system of leap years. The term 'year' is also used to indicate other periods of roughly similar duration, such as the lunar year (a roughly 354-day cycle of twelve of the Moon's phasessee lunar calendar), as well as periods loosely associated with the calendar or astronomical year, such as the seasonal year, the fiscal year, the academic year, etc. Due to the Earth's axial tilt, the course of a year sees the passing of the seasons, marked by changes in weather, the hours of daylight, and, consequently, vegetation and soil fertility. In temperate and subpolar regions around the planet, four seasons a ...
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Statistical Geneticists
Statistics (from German: ', "description of a state, a country") is the discipline that concerns the collection, organization, analysis, interpretation, and presentation of data. In applying statistics to a scientific, industrial, or social problem, it is conventional to begin with a statistical population or a statistical model to be studied. Populations can be diverse groups of people or objects such as "all people living in a country" or "every atom composing a crystal". Statistics deals with every aspect of data, including the planning of data collection in terms of the design of surveys and experiments. When census data (comprising every member of the target population) cannot be collected, statisticians collect data by developing specific experiment designs and survey samples. Representative sampling assures that inferences and conclusions can reasonably extend from the sample to the population as a whole. An experimental study involves taking measurements of the syst ...
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Sloan Kettering Institute
Memorial Sloan Kettering Cancer Center (MSK or MSKCC) is a cancer treatment and research institution in Manhattan in New York City. MSKCC is one of 72 National Cancer Institute– designated Comprehensive Cancer Centers. Its main campus is located at 1275 York Avenue between 67th and 68th Streets in Manhattan. It was formed in 1980 from the merger of the ''Memorial Hospital for the Treatment of Cancer and Allied Diseases'', founded in 1884, and the adjacent ''Sloan-Kettering Institute for Cancer Research'', founded in 1945. The two medical entities had formally coordinated their operations since 1960. History Early history of Memorial Hospital (1884–1934) The hospital was founded in its original building on the Upper West Side of Manhattan in 1884 as ''New York Cancer Hospital'' by a group that included John Jacob Astor III and his wife Charlotte. The hospital appointed as an attending surgeon William B. Coley, who pioneered an early form of immunotherapy to eradi ...
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Dana Pe'er
Dana Pe'er (; born 1971), Chair and Professor in Computational and Systems Biology Program at Sloan Kettering Institute is a researcher in computational systems biology. A Howard Hughes Medical Institute (HHMI) Investigator since 2021, she was previously a professor at Columbia Department of Biological Sciences. Pe'er's research focuses on understanding the organization, function and evolution of molecular networks, particularly how genetic variations alter the regulatory network and how these genetic variations can cause cancer. Early life and education Pe'er was born in Israel. Her husband, Itsik Pe'er, is a computational biologist at Columbia University. Together, they have raised two daughters. Pe'er received a bachelor's degree in mathematics in 1995, as well as master's in 1999 and PhD degrees in computer science in 2003, from the Hebrew University of Jerusalem. She earned her master's degree under Avi Widgerson, and carried out her PhD research in the lab of Nir Fried ...
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Personalized Medicine
Personalized medicine, also referred to as precision medicine, is a medical model that separates people into Statistical population#Sub population, different groups—with medical Decision-making, decisions, Medical practice, practices, Medical intervention, interventions and/or products being Personalization, tailored to the individual patient based on their Predictive medicine, predicted response or Risk factor, 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 Numeronym#Repeated letters, short for "predictive, preventive, personalized and participatory". While the tailoring of treatment to patients dates back at least to the time of Hippocrates, the usage of the term has risen in recent years thanks to the development of new diagnostic and informatics approa ...
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Ashkenazi Jews
Ashkenazi Jews ( ; also known as Ashkenazic Jews or Ashkenazim) form a distinct subgroup of the Jewish diaspora, that emerged in the Holy Roman Empire around the end of the first millennium CE. They traditionally speak Yiddish, a language that originated in the 9th century, and largely migrated towards northern and eastern Europe during the late Middle Ages due to persecution. Hebrew was primarily used as a literary and sacred language until its 20th-century revival as a common language in Israel. Ashkenazim adapted their traditions to Europe and underwent a transformation in their interpretation of Judaism. In the late 18th and 19th centuries, Jews who remained in or returned to historical German lands experienced a cultural reorientation. Under the influence of the Haskalah and the struggle for emancipation, as well as the intellectual and cultural ferment in urban centres, some gradually abandoned Yiddish in favor of German and developed new forms of Jewish relig ...
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Copy Number Variation
Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals. Copy number variation is a type of structural variation: specifically, it is a type of duplication or deletion event that affects a considerable number of base pairs. Approximately two-thirds of the entire human genome may be composed of repeats and 4.8–9.5% of the human genome can be classified as copy number variations. In mammals, copy number variations play an important role in generating necessary variation in the population as well as disease phenotype. Copy number variations can be generally categorized into two main groups: short repeats and long repeats. However, there are no clear boundaries between the two groups and the classification depends on the nature of the loci of interest. Short repeats include mainly dinucleotide repeats (two repeating nucleotides e.g. A-C-A-C-A-C...) and trinucleotide repeats. Lon ...
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Human Genetics
Human genetics is the study of inheritance as it occurs in Human, human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling. Genes are the common factor of the qualities of most human-inherited traits. Study of human genetics can answer questions about human nature, can help understand diseases and the development of effective treatment and help us to understand the genetics of human life. This article describes only basic features of human genetics; for the genetics of disorders please see: medical genetics. For information on the genetics of DNA repair defects related to accelerated aging and/or increased risk of cancer please see: DNA repair-deficiency disorder. Genetic differences and inheritance patterns Inheritance of traits for humans are based upon Gregor Mendel's model ...
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