Biomedical Data Science
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Biomedical Data Science
Biomedical data science is a multidisciplinary field which leverages large volumes of data to promote biomedical innovation and discovery. Biomedical data science draws from various fields including Biostatistics, Biomedical informatics, and machine learning, with the goal of understanding biological and medical data. It can be viewed as the study and application of data science to solve biomedical problems. Modern biomedical datasets often have specific features which make their analyses difficult, including: * Large numbers of feature (sometimes billions), typically far larger than the number of samples (typically tens or hundreds) * Noisy and missing data * Privacy concerns (e.g., electronic health record confidentiality) * Requirement of interpretability from decision makers and regulatory bodies Many biomedical data science projects apply machine learning to such datasets. These characteristics, while also present in many data science applications more generally, make biomed ...
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Biostatistics
Biostatistics (also known as biometry) are the development and application of statistical methods to a wide range of topics in biology. It encompasses the design of biological experiments, the collection and analysis of data from those experiments and the interpretation of the results. History Biostatistics and genetics Biostatistical modeling forms an important part of numerous modern biological theories. Genetics studies, since its beginning, used statistical concepts to understand observed experimental results. Some genetics scientists even contributed with statistical advances with the development of methods and tools. Gregor Mendel started the genetics studies investigating genetics segregation patterns in families of peas and used statistics to explain the collected data. In the early 1900s, after the rediscovery of Mendel's Mendelian inheritance work, there were gaps in understanding between genetics and evolutionary Darwinism. Francis Galton tried to expand Mendel's ...
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Mount Sinai Hospital (Manhattan)
Mount Sinai Hospital, founded in 1852, is one of the oldest and largest teaching hospitals in the United States. It is located in East Harlem in the New York City borough of Manhattan, on the eastern border of Central Park stretching along Madison and Fifth Avenues, between East 98th Street and East 103rd Street. The entire Mount Sinai health system has over 7,400 physicians, as well as 3,815 beds, and delivers over 16,000 babies a year. In 2019–20, the hospital was ranked 14th among the nearly 5,000 hospitals in the US by the ''U.S. News & World Report''. Adjacent to the hospital is the Mount Sinai Kravis Children's Hospital which provides comprehensive pediatric specialties and subspecialties to infants, children, teens, and young adults aged 0–21 throughout the region. History At the time of the founding of the hospital in 1852, other hospitals in New York City discriminated against Jewish people both by not hiring them to treat patients, and by prohibiting them from be ...
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Bioinformatics
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 (e ...
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Human Evolution
Human evolution is the evolutionary process within the history of primates that led to the emergence of ''Homo sapiens'' as a distinct species of the hominid family, which includes the great apes. This process involved the gradual development of traits such as human bipedalism and language, as well as interbreeding with other hominins, which indicate that human evolution was not linear but a web.Human Hybrids
(PDF). Michael F. Hammer. ''Scientific American'', May 2013.
The study of human evolution involves scientific disciplines, including
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DNA Read Errors
In bioinformatics, a DNA read error occurs when a sequence assembly, sequence assembler changes one DNA base for a different DNA base, base. The reads from the Sequence analysis, sequence assembler can then be used to create a de Bruijn graph, which can be used in various ways to find errors. Overview In a de Bruijn graph, there is a possibility of 4^k different nodes to make arrangements of a genome. The number of nodes used to create the graph can be reduced in number by considering only the k-mers found within the DNA strand of interest. Given sequence 1, it is possible to determine the nodes of size 7, or 7-mers, that will be in the graph. These 7-mers then create the graph shown in figure 1. The Chart, graph shown in figure 1 is a very simple version of what a graph could look like.''De Bruijn Graph of a small sequence''. (2011). Retrieved Feb 7, 2015, from Homolog.us — Bioinformatics: http://www.homolog.us/Tutorials/index.php?p=2.1&s=1 This graph is formed by taking ...
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BLAST (biotechnology)
In bioinformatics, BLAST (basic local alignment search tool) is an algorithm and program for comparing primary biological sequence information, such as the amino-acid sequences of proteins or the nucleotides of DNA and/or RNA sequences. A BLAST search enables a researcher to compare a subject protein or nucleotide sequence (called a query) with a library or database of sequences, and identify database sequences that resemble alphabet above a certain threshold. For example, following the discovery of a previously unknown gene in the mouse, a scientist will typically perform a BLAST search of the human genome to see if humans carry a similar gene; BLAST will identify sequences in the pig genome that resemble the mouse gene based on similarity of sequence. Background BLAST, which ''The New York Times'' called ''the Google of biological research'', is one of the most widely used bioinformatics programs for sequence searching. It addresses a fundamental problem in bioinformatics r ...
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Sequence Alignment
In bioinformatics, a sequence alignment is a way of arranging the sequences of DNA, RNA, or protein to identify regions of similarity that may be a consequence of functional, structural, or evolutionary relationships between the sequences. Aligned sequences of nucleotide or amino acid residues are typically represented as rows within a matrix. Gaps are inserted between the residues so that identical or similar characters are aligned in successive columns. Sequence alignments are also used for non-biological sequences, such as calculating the distance cost between strings in a natural language or in financial data. Interpretation If two sequences in an alignment share a common ancestor, mismatches can be interpreted as point mutations and gaps as indels (that is, insertion or deletion mutations) introduced in one or both lineages in the time since they diverged from one another. In sequence alignments of proteins, the degree of similarity between amino acids occupying a parti ...
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Sequence Assembly
In bioinformatics, sequence assembly refers to aligning and merging fragments from a longer DNA sequence in order to reconstruct the original sequence. This is needed as DNA sequencing technology might not be able to 'read' whole genomes in one go, but rather reads small pieces of between 20 and 30,000 bases, depending on the technology used. Typically, the short fragments (reads) result from shotgun sequencing genomic DNA, or gene transcript ( ESTs). The problem of sequence assembly can be compared to taking many copies of a book, passing each of them through a shredder with a different cutter, and piecing the text of the book back together just by looking at the shredded pieces. Besides the obvious difficulty of this task, there are some extra practical issues: the original may have many repeated paragraphs, and some shreds may be modified during shredding to have typos. Excerpts from another book may also be added in, and some shreds may be completely unrecognizable. Genom ...
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Base Pair
A base pair (bp) is a fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. They form the building blocks of the DNA double helix and contribute to the folded structure of both DNA and RNA. Dictated by specific hydrogen bonding patterns, "Watson–Crick" (or "Watson–Crick–Franklin") base pairs (guanine–cytosine and adenine–thymine) allow the DNA helix to maintain a regular helical structure that is subtly dependent on its nucleotide sequence. The Complementarity (molecular biology), complementary nature of this based-paired structure provides a redundant copy of the genetic information encoded within each strand of DNA. The regular structure and data redundancy provided by the DNA double helix make DNA well suited to the storage of genetic information, while base-pairing between DNA and incoming nucleotides provides the mechanism through which DNA polymerase replicates DNA and RNA polymerase transcribes DNA in ...
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Human Genome
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the nuclear genome and the mitochondrial genome. Human genomes include both protein-coding DNA sequences and various types of DNA that does not encode proteins. The latter is a diverse category that includes DNA coding for non-translated RNA, such as that for ribosomal RNA, transfer RNA, ribozymes, small nuclear RNAs, and several types of regulatory RNAs. It also includes promoters and their associated gene-regulatory elements, DNA playing structural and replicatory roles, such as scaffolding regions, telomeres, centromeres, and origins of replication, plus large numbers of transposable elements, inserted viral DNA, non-functional pseudogenes and simple, highly-repetitive sequences. Introns make up a large percentage of non-coding DNA. ...
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Human Genome Project
The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a physical and a functional standpoint. It started in 1990 and was completed in 2003. It remains the world's largest collaborative biological project. Planning started after the idea was picked up in 1984 by the US government, the project formally launched in 1990, and was declared essentially complete on April 14, 2003, but included only about 85% of the genome. Level "complete genome" was achieved in May 2021, with a remaining only 0.3% bases covered by potential issues. The final gapless assembly was finished in January 2022. Funding came from the United States government through the National Institutes of Health (NIH) as well as numerous other groups from around the world. A parallel project was conducted outside the government by the ...
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Annual Review Of Biomedical Data Science
The ''Annual Review of Biomedical Data Science'' is an academic journal published by Annual Reviews. In publication since 2018, this journal covers significant developments in the field of health informatics and biomedical data science with an annual volume of review articles. It is edited by Russ Altman. As of 2023, it is being published as open access, under the Subscribe to Open model. As of 2024, ''Journal Citation Reports'' lists the journal's impact factor as 7.0, ranking it second out of 65 journals. History The ''Annual Review of Biomedical Data Science'' was first published in 2018 by the nonprofit publisher Annual Reviews. The journal focuses on biomedical data science, the development of scientific methods to acquire, annotate, organize, analyze, and interpret biomedical data and extract knowledge about life, health, and disease. The founding co- editors were Russ B. Altman and Michael Levitt. As of 2021, Altman was the lead editor. Scope and indexing The ''An ...
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