(A: Globin-gene causative mutation; B: Disease-modifying mutation; C: Neutral polymorphism).

Manually curated database of all conditions with known genetic causes, focusing on medically significant genetic data with available interventions. Includes gene symbol, conditions, allelic conditions, inheritance, age in which interventions are indicated, clinical categorization, and general description of interventions/rationale. Contents are intended to describe types of interventions that might be considered. Includes only single gene alterations and does not include genetic associations or susceptibility factors related to more complex diseases.

A database of oncogenes and tumor suppressor genes. Users can search by genes, chromosomes, and keywords. The coAnsensus domain analysis tool functions to identify conserved protein domains and GO terms among selected TAG genes, while the “oncogenic domain analysis” can analyze oncogenic potential of any user-provided protein based on a weighed term frequency table calculated from the TAG proteins. The completion of human genome sequences allows one to rapidly identify and analyze genes of interest through the use of computational approach. The available annotations including physical characterization and functional domains of known tumor-related genes thus can be used to study the role of genes involved in carcinogenesis. The tumor-associated gene (TAG) database was designed to utilize information from well-characterized oncogenes and tumor suppressor genes to facilitate cancer research. All target genes were identified through text-mining approach from the PubMed database. A semi-automatic information retrieving engine was built to collect specific information of these target genes from various resources and store in the TAG database. At current stage, 519 TAGs including 198 oncogenes, 170 tumor suppressor genes, and 151 genes related to oncogenesis were collected. Information collected in TAG database can be browsed through user-friendly web interfaces that provide searching genes by chromosome or by keywords. The “consensus domain analysis” tool functions to identify conserved protein domains and GO terms among selected TAG genes. In addition, the “oncogenic domain analysis” can analyze oncogenic potential of any user-provided protein based on a weighed term frequency table calculated from the TAG proteins. This study was supported by grant from National research program for genomic medicine (NRPGM) and personnel from Bioinformatics Center of Center for Biotechnology and Biosciences in the National Cheng Kung University, Taiwan.

Community model organism database for laboratory mouse and authoritative source for phenotype and functional annotations of mouse genes. MGD includes complete catalog of mouse genes and genome features with integrated access to genetic, genomic and phenotypic information, all serving to further the use of the mouse as a model system for studying human biology and disease. MGD is a major component of the Mouse Genome Informatics.Contains standardized descriptions of mouse phenotypes, associations between mouse models and human genetic diseases, extensive integration of DNA and protein sequence data, normalized representation of genome and genome variant information. Data are obtained and integrated via manual curation of the biomedical literature, direct contributions from individual investigators and downloads from major informatics resource centers. MGD collaborates with the bioinformatics community on the development and use of biomedical ontologies such as the Gene Ontology (GO) and the Mammalian Phenotype (MP) Ontology.

A software application and database viewing system for genomic research, more specifically formulti-genome comparison and pattern discovery via genome self-comparison. Data are available for a range of species including Human Chr3, Human Chr12, Sea Urchin, Tribolium, and cow. The Genboree Discovery System is the largest software system developed at the bioinformatics laboratory at Baylor in close collaboration with the Human Genome Sequencing Center. Genboree is a turnkey software system for genomic research. Genboree is hosted on the Internet and, as of early 2007, the number of registered users exceeds 600. While it can be configured to support almost any genome-centric discovery process, a number of configurations already exist for specific applications. Current focus is on enabling studies of genome variation, including array CGH studies, PCR-based resequencing, genome resequencing using comparative sequence assembly, genome remapping using paired-end tags and sequences, genome analysis and annotation, multi-genome comparison and pattern discovery via genome self-comparison. Genboree database and visualization settings, tools, and user roles are configurable to fit the needs of specific discovery processes. Private permanent project-specific databases can be accessed in a controlled way by collaborators via the Internet. Project-specific data is integrated with relevant data from public sources such as genome browsers and genomic databases. Data processing tools are integrated using a plug-in model. Genboree is extensible via flexible data-exchange formats to accommodate project specific tools and processing steps. Our Positional Hashing method, implemented in the Pash program, enables extremely fast and accurate sequence comparison and pattern discovery by employing low-level parallelism. Pash enables fast and sensitive detection of orthologous regions across mammalian genomes, and fast anchoring of hundreds of millions of short sequences produced by next-generation sequencing technologies. We are further developing the Pash program and employing it in the context of various discovery pipelines. Our laboratory participates in the pilot stage of the TCGA (The Cancer Genome Atlas) project. We aim to develop comprehensive, rapid, and economical methods for detecting recurrent chromosomal aberrations in cancer using next-generation sequencing technologies. The methods will allow detection of recurrent chromosomal aberrations in hundreds of small (

The blockchain in genomic management market is experiencing significant growth, driven by increasing concerns about data privacy and security in the genomics industry, coupled with the rising adoption of digital health technologies. The market's expansion is fueled by the inherent security and transparency features of blockchain technology, enabling secure data storage, efficient data sharing, and enhanced patient control over their genomic information. This allows for the creation of secure and trustworthy genomic databases, fostering collaboration among researchers, healthcare providers, and patients. Furthermore, the ability of blockchain to streamline data access and reduce administrative costs is driving wider adoption across various segments, including healthcare providers, research institutions, and pharmaceutical companies. We estimate the market size in 2025 to be around $250 million, based on observed growth in related digital health sectors and anticipated market penetration of blockchain solutions. A conservative Compound Annual Growth Rate (CAGR) of 25% is projected over the forecast period (2025-2033), indicating a substantial market expansion to over $2 billion by 2033. Key restraints currently hindering wider market penetration include the complexity of implementing blockchain solutions in existing healthcare infrastructures, regulatory uncertainty surrounding data privacy and usage, and the need for widespread education and awareness about blockchain technology's benefits in the genomics field. However, ongoing technological advancements, increasing regulatory clarity, and growing industry collaborations are expected to mitigate these challenges. Major market segments include data storage and management, access control and authorization, and drug development and clinical trials. Companies such as EncrypGen, SimplyVital Health, Genomes.io, Block23, and DNAtix are actively shaping market dynamics through their innovative blockchain-based genomic solutions. Regional growth is anticipated to be robust across North America and Europe initially, with increasing adoption in Asia-Pacific and other regions following suit as technological infrastructure and regulatory frameworks mature.

Data sets used for analyzing miscounts.

DoTS (Database Of Transcribed Sequences) is a human and mouse transcript index created from all publicly available transcript sequences. The input sequences are clustered and assembled to form the DoTS Consensus Transcripts that comprise the index. These transcripts are assigned stable identifiers of the form DT.123456 (and are often referred to as dots). The transcripts are in turn clustered to form putative DoTS Genes. These are assigned stable identifiers of the form DG.1234356. As of September 1, 2004, the DoTS annotation team has manually annotated 43,164 human and 78,054 mouse DoTS Transcripts (DTs), corresponding to 3,939 human and 7,752 mouse DoTS Genes (DGs). Use the manually annotated gene query to see the DoTS Transcripts that have been manually annotated. The focus of the DoTS project is integrating the various types of data (e.g., EST sequences, genomic sequence, expression data, functional annotation) in a structured manner which facilitates sophisticated queries that are otherwise not easy to perform. DoTS is built on the GUS Platform which includes a relational database that uses controlled vocabularies and ontologies to ensure that biologically meaningful queries can be posed in a uniform fashion. An easy way to start using the site is to search for DoTS Transcripts using an existing cDNA or mRNA sequence. Click on the BLAST tab at the top of the page and enter your sequence in the form provided. All the transcripts with significant sequence similarity to your query sequence will be displayed. Or use one of the provided queries to retrieve transcripts using a number of criteria. These queries are listed on the query page, which can also be reached by clicking on the tab marked query at the top of the page. Finally, the boolean query page allows these queries to be combined in a variety of ways. Sponsors: Funding provided by -NIH grant RO1-HG-01539-03 -DOE grant DE-FG02-00ER62893

CottonGen (https://www.cottongen.org) is a curated and integrated web-based relational database providing access to publicly available genomic, genetic and breeding data to enable basic, translational and applied research in cotton. Built using the open-source Tripal database infrastructure, CottonGen supersedes CottonDB and the Cotton Marker Database, which includes sequences, genetic and physical maps, genotypic and phenotypic markers and polymorphisms, quantitative trait loci (QTLs), pathogens, germplasm collections and trait evaluations, pedigrees, and relevant bibliographic citations, with enhanced tools for easier data sharing, mining, visualization, and data retrieval of cotton research data. CottonGen contains annotated whole genome sequences, unigenes from expressed sequence tags (ESTs), markers, trait loci, genetic maps, genes, taxonomy, germplasm, publications and communication resources for the cotton community. Annotated whole genome sequences of Gossypium raimondii are available with aligned genetic markers and transcripts. These whole genome data can be accessed through genome pages, search tools and GBrowse, a popular genome browser. Most of the published cotton genetic maps can be viewed and compared using CMap, a comparative map viewer, and are searchable via map search tools. Search tools also exist for markers, quantitative trait loci (QTLs), germplasm, publications and trait evaluation data. CottonGen also provides online analysis tools such as NCBI BLAST and Batch BLAST. This project is funded/supported by Cotton Incorporated, the USDA-ARS Crop Germplasm Research Unit at College Station, TX, the Southern Association of Agricultural Experiment Station Directors, Bayer CropScience, Corteva/Agriscience, Dow/Phytogen, Monsanto, Washington State University, and NRSP10. Resources in this dataset:Resource Title: Website Pointer for CottonGen. File Name: Web Page, url: https://www.cottongen.org/ Genomic, Genetic and Breeding Resources for Cotton Research Discovery and Crop Improvement organized by :

Species (Gossypium arboreum, barbadense, herbaceum, hirsutum, raimondii, others), Data (Contributors, Download, Submission, Community Projects, Archives, Cotton Trait Ontology, Nomenclatures, and links to Variety Testing Data and NCBISRA Datasets), Search options (Colleague, Genes and Transcripts, Genotype, Germplasm, Map, Markers, Publications, QTLs, Sequences, Trait Evaluation, MegaSearch), Tools (BIMS, BLAST+, CottonCyc, JBrowse, Map Viewer, Primer3, Sequence Retrieval, Synteny Viewer), International Cotton Genome Initiative (ICGI), and Help sources (User manual, FAQs).

Also provides Quick Start links for Major Species and Tools.

Database of comparative gene mapping between species to assist the mapping of the genes related to phenotypic traits in livestock. The linkage maps, cytogenetic maps, polymerase chain reaction primers of pig, cattle, mouse and human, and their references have been included in the database, and the correspondence among species have been stipulated in the database. AGP is an animal genome database developed on a Unix workstation and maintained by a relational database management system. It is a joint project of National Institute of Agrobiological Sciences (NIAS) and Institute of the Society for Techno-innovation of Agriculture, Forestry and Fisheries (STAFF-Institute), under cooperation with other related research institutes. AGP also contains the Pig Expression Data Explorer (PEDE), a database of porcine EST collections derived from full-length cDNA libraries and full-length sequences of the cDNA clones picked from the EST collection. The EST sequences have been clustered and assembled, and their similarity to sequences in RefSeq, and UniGene determined. The PEDE database system was constructed to store sequences and similarity data of swine full-length cDNA libraries and to make them available to users. It provides interfaces for keyword and ID searches of BLAST results and enables users to obtain sequence data and names of clones of interest. Putative SNPs in EST assemblies have been classified according to breed specificity and their effect on coding amino acids, and the assemblies are equipped with an SNP search interface. The database contains porcine nucleotide sequences and cDNA clones that are ready for analyses such as expression in mammalian cells, because of their high likelihood of containing full-length CDS. PEDE will be useful for researchers who want to explore genes that may be responsible for traits such as disease susceptibility. The database also offers information regarding major and minor porcine-specific antigens, which might be investigated in regard to the use of pigs as models in various medical research applications.

1Uppercase allele designations indicate the dominant functional versions of the gene. In each case, the recessive mutant version of the gene is earlier flowering and maturing than the functional dominant version of the gene. The Williams 82 genome contains an earlier maturing missense version of E1 (e1-as; T15R compared to the wild-type functional E1) [5]. Allele names are taken or modified from the published descriptions for clarity.2The underlined alleles were identified and described in the literature but were not present in the two datasets used for this analysis.3Although the Williams 82 E3 allele is considered functional, it was shown to contain an insertion in intron three consisting of transposable element-like sequences when compared to other functional E3 alleles without the insertion in intron 3 [7]. We herein denote the E3 from Williams 82 as E3 and the equivalently functional shorter E3 allele as E3 (short).

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 29, 2016. Database containing structural annotations for the proteomes of just under 100 organisms. Using data derived from public databases of translated genomic sequences, representatives from the major branches of Life are included: Prokaryota, Eukaryota and Archaea. The annotations stored in the database may be accessed in a number of ways. The help page provides information on how to access the database. 3D-GENOMICS is now part of a larger project, called e-Protein. The project brings together similar databases at three sites: Imperial College London , University College London and the European Bioinformatics Institute . e-Protein''s mission statement is To provide a fully automated distributed pipeline for large-scale structural and functional annotation of all major proteomes via the use of cutting-edge computer GRID technologies. The following databases are incorporated: NRprot, SCOP, ASTRAL, PFAM, Prosite, taxonomy, COG The following eukaryotic genomes are incorporated: Anopheles gambiae, protein sequences from the mosquito genome; Arabidopsis thaliana, protein sequences from the Arabidopsis genome; Caenorhabditis briggsae, protein sequences from the C.briggsae genome; Caenorhabditis elegans protein sequences from the worm genome; Ciona intestinalis protein sequences from the sea squirt genome; Danio rerio protein sequences from the zebrafish genome; Drosophila melanogaster protein sequences from the fruitfly genome; Encephalitozoon cuniculi protein sequences from the E.cuniculi genome; Fugu rubripes protein sequences from the pufferfish genome; Guillardia theta protein sequences from the G.theta genome; Homo sapiens protein sequences from the human genome; Mus musculus protein sequences from the mouse genome; Neurospora crassa protein sequences from the N.crassa genome; Oryza sativa protein sequences from the rice genome; Plasmodium falciparum protein sequences from the P.falciparum genome; Rattus norvegicus protein sequences from the rat genome; Saccharomyces cerevisiae protein sequences from the yeast genome; Schizosaccharomyces pombe protein sequences from the yeast genome

Generates data for use in developing and refining computational tools for comparing genomic sequence from multiple species. The NISC Comparative Sequencing Program's goal is to establish a data resource consisting of sequences for the same set of targeted genomic regions derived from multiple animal species. The broader program includes plans for a diverse set of analytical studies using the generated sequence and the publication of a series of papers describing the results of those analysis in peer-reviewed journals in a timely fashion. Experimentally, this project involves the shotgun sequencing of mapped BAC clones. For each BAC, an assembly is first performed when a sufficient number of sequence reads have been generated to provide full shotgun coverage of the clone. At that time, the assembled sequence is submitted to the HTGS division of GenBank. Subsequent refinements of the sequence, including the generation of higher-accuracy finished sequence, results in the updating of the sequence record in GenBank. By immediately submitting our BAC-derived sequences to GenBank, it makes their data available as a public service to allow colleagues to speed up their research, consistent with the now well-established routine of sequencing centers participating in the Human Genome Project. However, at the same time, it has made considerable investment in acquiring these mapping and sequence data, including sizable efforts of graduate students, postdoctoral fellows, and other trainees. Furthermore, in most cases, large data sets involving multiple BAC sequences from multiple species must first be generated, often taking many months to accumulate, before the planned analysis can be performed and the resulting papers written and submitted for publication.

FULL-malaria is a database for a full-length-enriched cDNA library from the human malaria parasite Plasmodium falciparum. Because of its medical importance, this organism is the first target for genome sequencing of a eukaryotic pathogen; the sequences of two of its 14 chromosomes have already been determined. However, for the full exploitation of this rapidly accumulating information, correct identification of the genes and study of their expression are essential. Using the oligo-capping method, this database has produced a full-length-enriched cDNA library from erythrocytic stage parasites and performed one-pass reading. The database consists of nucleotide sequences of 2490 random clones that include 390 (16%) known malaria genes according to BLASTN analysis of the nr-nt database in GenBank; these represent 98 genes, and the clones for 48 of these genes contain the complete protein-coding sequence (49%). On the other hand, comparisons with the complete chromosome 2 sequence revealed that 35 of 210 predicted genes are expressed, and in addition led to detection of three new gene candidates that were not previously known. In total, 19 of these 38 clones (50%) were full-length. From these observations, it is expected that the database contains approximately 1000 genes, including 500 full-length clones. It should be an invaluable resource for the development of vaccines and novel drugs. Full-malaria has been updated in at least three points. (i) 8934 sequences generated from the addition of new libraries added so that the database collection of 11,424 full-length cDNAs covers 1375 (25%) of the estimated number of the entire 5409 parasite genes. (ii) All of its full-length cDNAs and GenBank EST sequences were mapped to genomic sequences together with publicly available annotated genes and other predictions. This precisely determined the gene structures and positions of the transcriptional start sites, which are indispensable for the identification of the promoter regions. (iii) A total of 4257 cDNA sequences were newly generated from murine malaria parasites, Plasmodium yoelii yoelii. The genome/cDNA sequences were compared at both nucleotide and amino acid levels, with those of P.falciparum, and the sequence alignment for each gene is presented graphically. This part of the database serves as a versatile platform to elucidate the function(s) of malaria genes by a comparative genomic approach. It should also be noted that all of the cDNAs represented in this database are supported by physical cDNA clones, which are publicly and freely available, and should serve as indispensable resources to explore functional analyses of malaria genomes. Sponsors: This database has been constructed and maintained by a Grant-in-Aid for Publication of Scientific Research Results from the Japan Society for the Promotion of Science (JSPS). This work was also supported by a Special Coordination Funds for Promoting Science and Technology from the Science and Technology Agency of Japan (STA) and a Grant-in-Aid for Scientific Research on Priority Areas from the Ministry of Education, Science, Sports and Culture of Japan.

A publicly available database of Transposed elements (TEs) which are located within protein-coding genes of 7 organisms: human, mouse, chicken, zebrafish, fruilt fly, nematode and sea squirt. Using TranspoGene the user can learn about the many aspects of the effect these TEs have on their hosting genes, such as: exonization events (including alternative splicing-related data), insertion of TEs into introns, exons, and promoters, specific location of the TE over the gene, evolutionary divergence of the TE from its consensus sequence and involvement in diseases. TranspoGene database is quickly searchable through its website, enables many kinds of searches and is available for download. TranspoGene contains information regarding specific type and family of the TEs, genomic and mRNA location, sequence, supporting transcript accession and alignment to the TE consensus sequence. The database also contains host gene specific data: gene name, genomic location, Swiss-Prot and RefSeq accessions, diseases associated with the gene and splicing pattern. The TranspoGene and microTranspoGene databases can be used by researchers interested in the effect of TE insertion on the eukaryotic transcriptome.

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The genomics market is expected to grow at a CAGR of 15% during the forecast period. Rising investments in genomic research and development, Reduction in cost of genetic sequencing, and Increasing demand for creating and upgrading genome databases are some of the significant factors fueling genomics market growth.

Rising investments in genomic research and development

Danaher Corp. - Key news News type Description M&A, divestitures, JVs, and partnerships In October 2019, the company announced that it signed an agreement to sell its label-free biomolecular characterization, chromatography hardware and resins, and microcarriers and particle validation standards businesses to Sartorius for approximately $750 million. In February 2019, the company entered into a definitive agreement with General Electric to acquire the Biopharma business of GE Life Sciences for approximately $21.4 billion. Organizational restructuring In September 2019, Envista Holdings Corp. (Envista Holdings), a subsidiary of Danaher, announced the closing of its IPO of 26,768,000 shares of its common stock at a price to the public of $22.00 per share. In June 2019, the company announced that its new dental company would be named Envista Holdings Corp. Key hiring, CEO, and BU heads In November 2019, the company announced the appointment of Jessica L. Mega and Pardis C. Sabeti to its board of directors.

THIS RESOURCE IS NO LONGER IN SERVICE, documented on 8/12/13. An expanded version of the Alternative Splicing Annotation Project (ASAP) database with a new interface and integration of comparative features using UCSC BLASTZ multiple alignments. It supports 9 vertebrate species, 4 insects, and nematodes, and provides with extensive alternative splicing analysis and their splicing variants. As for human alternative splicing data, newly added EST libraries were classified and included into previous tissue and cancer classification, and lists of tissue and cancer (normal) specific alternatively spliced genes are re-calculated and updated. They have created a novel orthologous exon and intron databases and their splice variants based on multiple alignment among several species. These orthologous exon and intron database can give more comprehensive homologous gene information than protein similarity based method. Furthermore, splice junction and exon identity among species can be valuable resources to elucidate species-specific genes. ASAP II database can be easily integrated with pygr (unpublished, the Python Graph Database Framework for Bioinformatics) and its powerful features such as graph query, multi-genome alignment query and etc. ASAP II can be searched by several different criteria such as gene symbol, gene name and ID (UniGene, GenBank etc.). The web interface provides 7 different kinds of views: (I) user query, UniGene annotation, orthologous genes and genome browsers; (II) genome alignment; (III) exons and orthologous exons; (IV) introns and orthologous introns; (V) alternative splicing; (IV) isoform and protein sequences; (VII) tissue and cancer vs. normal specificity. ASAP II shows genome alignments of isoforms, exons, and introns in UCSC-like genome browser. All alternative splicing relationships with supporting evidence information, types of alternative splicing patterns, and inclusion rate for skipped exons are listed in separate tables. Users can also search human data for tissue- and cancer-specific splice forms at the bottom of the gene summary page. The p-values for tissue-specificity as log-odds (LOD) scores, and highlight the results for LOD >= 3 and at least 3 EST sequences are all also reported.

Database of Genomic Structural Variation (dbVar) is NCBI's database of human genomic Structural Variation — large variants >50 bp including insertions, deletions, duplications, inversions, mobile elements, translocations, and complex variants.

GREEN-DB is a comprehensive collection of 2.4 million regulatory elements in the human genome collected from previously published databases, high-throughput screenings and functional studies. Regulatory regions are classified as enhancers, promoters, silencers, bivalent and information on the controlled gene(s), tissue(s) and associated phenotype(s) are provided for each element when possible. We also calculated a variation constraint metric (range 0-1) for these regulatory regions and showed that genes controlled by constrained regions are enriched for disease-associated genes and essential genes from mouse knock-out screenings.

The database also includes information from ENCODE TFBS and DNase peaks; ultra-conserved non-coding elements (UCNE), super-enhancers (dbSuper) and TAD domains (TAD-KB).

This release includes 5 files:

GREEN-DB_v2.5.db.gz: The full database in SQLite format

GRCh37_GREEN-DB.bed.gz[.csi]: A indexed BED file using GRCh37 genome coordinates describing the regulatory regions and associated information useful for variant annotations (controlled genes, closest gene/TSS, constraint metric).

GRCh38_GREEN-DB.bed.gz[.csi]: A indexed BED file using GRCh38 genome coordinates describing the regulatory regions and associated information useful for variant annotations (controlled genes, closest gene/TSS, constraint metric).

To annotate a VCF file with information from GREEN-DB you can use the bed files and our tool GREEN-VARAN (https://github.com/edg1983/GREEN-VARAN).

For more information on the GREEN-DB please refer to our publication (https://doi.org/10.1101/2020.09.17.301960) and to online documentation (https://green-varan.readthedocs.io/en/latest/)

GREEN-DB is free to use for academic users, please refer to the attached LICENSE file.

Changes from the previous version:

• We fixed an issue with alias symbols conversion that caused a small fraction of region-gene links to point to the wrong gene

• Due to the problem above, we removed any region-gene link where the region and the controlled gene were located on different chromosomes

• GREEN-DB now includes also TAD domain information from TAD-KB (http://dna.cs.miami.edu/TADKB/) and region-gene interactions are now annotated for occurrence within the same TAD

• Better constraint metric model that now takes into account overlap with exonic regions

• In addition to the closest gene, an annotation for the closest TSS and its distance is now provided

The results of trimming reads at unique (erroneous) k-mers from a 5 m read E. coli data set (1.4 GB) in under 30 MB of RAM. After each iteration, we measured the total number of distinct k-mers in the data set, the total number of unique (and likely erroneous) k-mers remaining, and the number of unique k-mers present at the 3' end of reads.