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SciCrunch Registry is a curated repository of scientific resources, with a focus on biomedical resources, including tools, databases, and core facilities - visit SciCrunch to register your resource.

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Resource Name Proper Citation Abbreviations Resource Type Description Keywords Resource Relationships Related Condition Funding Defining Citation Availability Specification URL Alternate IDs Alternate URLs Old URLs Parent Organization Resource ID Authority Synonyms Record Last Update Mentions Count
Whole Brain Atlas
 
Resource Report
Resource Website
10+ mentions
Whole Brain Atlas (RRID:SCR_005390) atlas, data or information resource, data repository, image repository, narrative resource, service resource, storage service resource, training material An atlas of normal and abnormal brain images intended as an introduction to basic neuroanatomy, with emphasis on the pathoanatomy of several leading central nervous system diseases that integrates clinical information with magnetic resonance (MR), x-ray computed tomography (CT), and nuclear medicine images. A range of brain abnormalities are presented including examples of certain brain disease presented with various combinations of image type and imaging frequency. Submissions of concise, exemplary, clinically driven examples of neuroimaging are welcome. atlas, brain, human, abnormal brain image, neuroanatomy, imaging is listed by: re3data.org
has parent organization: Harvard Medical School; Massachusetts; USA
Inflammatory disease, Infectious disease, Degenerative disease, Neoplastic disease, Brain tumor, Cerebrovascular disease, Stroke American Academy of Neurology ;
Brigham and Womens Hospital; Massachusetts; USA ;
Departments of Radiology and Neurology ;
Countway Library of Medicine
Copyrighted, Acknowledgement required, Non-commercial, The community can contribute to this resource r3d100010274, nif-0000-00079 https://doi.org/10.17616/R34P4F SCR_005390 SciCrunch Registry 2026-11-07 11:55:32 28
ZENODO
 
Resource Report
Resource Website
5000+ mentions
ZENODO (RRID:SCR_004129) ZENODO catalog, data or information resource, data repository, database, service resource, software repository, software resource, storage service resource Repository for all research outputs from across all fields of science in any file format as well as both positive and negative results. They assign all publicly available uploads a Digital Object Identifier (DOI) to make the upload easily and uniquely citeable. They further support harvesting of all content via the OAI-PMH protocol. They promote peer-reviewed openly accessible research, and curate uploads. ZENODO allows users to create their own collection and accept or reject all uploads to it. They allow for uploading under a multitude of different licenses and access levels. data set, software resource, video resource, audio track, image, poster, presentation, publication, digital preservation, digital archive, persistent identifier, digital object identifier, openaire orphan record repository is used by: NIH Heal Project
is recommended by: NIDDK Information Network (dkNET)
is recommended by: NIDDK - National Institute of Diabetes and Digestive and Kidney Diseases
is listed by: re3data.org
is listed by: DataCite
is listed by: FAIRsharing
is related to: OpenAIRE
European Union FP7 OpenAIREplus 283595 DOI:10.5281, nlx_158614, DOI:10.17616/R3QP53, DOI:10.25504/FAIRsharing.wy4egf, r3d100011858 https://doi.org/10.17616/R3QP53, https://doi.org/10.17616/r3QP53, https://doi.org/10.5281/, https://dx.doi.org/10.5281/, https://fairsharing.org/10.25504/FAIRsharing.wy4egf, https://doi.org/10.17616/R35W56 SCR_004129 SciCrunch Registry Zenodo 2026-11-07 11:55:43 6074
Wellcome Images
 
Resource Report
Resource Website
Wellcome Images (RRID:SCR_004181) Wellcome Images data or information resource, data repository, database, image collection, image repository, service resource, storage service resource THIS RESOURCE IS NO LONGER IN SERVICE. Documented on January 9, 2023.Digital collection of images, with themes ranging from medical and social history to contemporary healthcare and biomedical science. The collection contains historical images from the Wellcome Library collections, Tibetan Buddhist paintings, ancient Sanskrit manuscripts written on palm leaves, beautifully illuminated Persian books and much more. The Biomedical Collection holds over 40 000 high-quality images from the clinical and biomedical sciences. Selected from the UK''s leading teaching hospitals and research institutions, it covers disease, surgery, general healthcare, sciences from genetics to neuroscience including the full range of imaging techniques. They are always looking for new high quality biomedical images from scientific researchers, clinical photographers and artists in any field of science or medicine. As a contributor you retain your original material and copyright, and receive commission and full credit each time your images are used. The annual Wellcome Images awards (previously known as Biomedical Images Awards) reward contributors for their outstanding work and winners are chosen by a panel of experts. The resulting public exhibitions are always extremely popular and receive widespread acclaim. All images on the Wellcome Images site are available free for use in: * private study and non-commercial research * examination papers * criticism and review, this applies only where there are no multiple copies made * theses submitted by a student at a higher or further education institution for the purposes of securing a degree * personal use by private individuals biomedical, clinical, disease, surgery, healthcare, genetics, neuroscience, imaging, science, medicine, history, painting, manuscript Wellcome Trust THIS RESOURCE IS NO LONGER IN SERVICE r3d100010779, nlx_143611 https://doi.org/10.17616/R3HS58 SCR_004181 SciCrunch Registry 2026-11-07 11:55:10 0
FishBase
 
Resource Report
Resource Website
500+ mentions
FishBase (RRID:SCR_004376) FishBase data or information resource, data repository, database, image repository, organism-related portal, portal, service resource, storage service resource, topical portal A global species database and encyclopedia of over 32,800 species and subspecies of fishes that is searchable by common name, genus, species, geography, family, ecosystem, references literature, tools, etc. It links to other, related databases such as the Catalog of Fishes, GenBack, and LarvalBase. It is associated with a partner journal, Acta Ichthyologica et Piscatoria. It is available in English, Greek, Spanish, Portuguese, French, Dutch, Italian, and German. Photo and video submissions are welcome. FishBase 2004 is also available on DVD or CD-ROMs with full information on 28,500 species. It comes together with the FishBase 2000 book and can be ordered for 95 US$ including air-mail. forum, blog, photo, book, image, ichthyology, FASEB list is listed by: re3data.org
is related to: Teleost Taxonomy Ontology
is related to: Phenoscape Knowledgebase
European Union Creative Commons Attribution-NonCommercial License, v3 Unported r3d100010912, nlx_39009 https://doi.org/10.17616/R3MW57 SCR_004376 SciCrunch Registry FishBase: A Global Information System on Fishes 2026-11-07 11:55:46 516
Biological Biochemical Image Database
 
Resource Report
Resource Website
10+ mentions
Biological Biochemical Image Database (RRID:SCR_003474) BBID data or information resource, data repository, database, image collection, image repository, service resource, storage service resource Database of images of putative biological pathways, macromolecular structures, gene families, and cellular relationships. It is of use to those who are working with large sets of genes or proteins using cDNA arrays, functional genomics, or proteomics. The rationale for this collection is that: # Except in a few cases, information on most biological pathways in higher eukaryotes is non-existent, incomplete, or conflicting. # Similar biological pathways differ by tissue context, developmental stages, stimulatory events, or for other complex reasons. This database allows comparisons of different variations of pathways that can be tested empirically. # The goal of this database is to use images created directly by biomedical scientists who are specialists in a particular biological system. It is specifically designed to NOT use average, idealized or redrawn pathways. It does NOT use pathways defined by computer algorithm or information search approaches. # Information on biological pathways in higher eukaryotes generally resides in the images and text of review papers. Much of this information is not easily accessible by current medical reference search engines. # All images are attributable to the original authors. All pathways or other biological systems described are graphic representations of natural systems. Each pathway is to be considered a work in progress. Each carries some degree of error or incompleteness. The end user has the ultimate responsibility to determine the scientific correctness and validity in their particular biological system. Image/pathway submissions are welcome. eukaryota, gene, gene family, biochemical, biological role, cdna, cdna array, cellular relationship, genomics, macromolecule, protein, proteomics, image, pathway, structure, annotation, cell, macromolecular structure, protein, functional genomics, proteomics has parent organization: Intramural Research Program NIH Blueprint for Neuroscience Research PMID:11099263 IMAGES MAY NOT BE USED WITHOUT BOTH THE WRITTEN PERMISSION FROM THE ORIGINAL PUBLISHER AND THE BBID DATABASE ADMINISTRATOR., The community can contribute to this resource nif-0000-00205 http://bbid.grc.nia.nih.gov/ SCR_003474 SciCrunch Registry BBID-Biological Biochemical Image Database 2026-11-07 11:55:20 11
MorphBank
 
Resource Report
Resource Website
10+ mentions
MorphBank (RRID:SCR_003147) Morphbank data or information resource, data repository, database, image repository, service resource, storage service resource An NSF supported image repository of over 374,000 high-resolution photographs of approximately 4,000 species for research and education, used largely but not exclusively in the area of biodiversity research. Images can be annotated by users and browsed by specimen, view, taxonomy, location, collection, or annotation. anatomy, phylogenetics, taxonomy, biodiversity, image, photographic, biological specimen, biology, herbaria, botany, entomology, morphology, phylogeny, evolution is listed by: re3data.org
has parent organization: Florida State University; Florida; USA
NSF DBI-0446224 Free, Freely available nlx_156841, r3d100010566 https://doi.org/10.17616/R30P5K SCR_003147 SciCrunch Registry Morphbank : Biological Imaging 2026-11-07 12:00:45 28
Tampa General Hospital-University of South Florida Health Precision Medicine Biorepository
 
Resource Report
Resource Website
1+ mentions
Tampa General Hospital-University of South Florida Health Precision Medicine Biorepository (RRID:SCR_027501) PMBioR biospecimen repository, material storage repository, service resource, storage service resource Procures high-quality biologic specimens along with coded clinical and demographic data across broad ethnic, racial, and social demographic of patients. All specimens are systematically collected and processed so that their multi-functional potential for recovering high-quality bioanalytes (including RNA, genomic DNA, protein, enzymes and metabolites) is conserved. All specimens are stored and protected in a database hub to connect researchers conducting variety of scientific projects across multiple medical specialties. Muilti-disciplinary biorepository with capacity for generating specialized bioanalytes. Muilti-disciplinary biorepository, generating specialized bioanalytes, biologic specimens, coded clinical and demographic data, RNA, genomic DNA, protein, enzymes, metabolites Restricted SCR_027501 SciCrunch Registry TGH-USF Health Precision Medicine Biorepository 2026-11-07 12:07:16 1
UCSF DataShare
 
Resource Report
Resource Website
1+ mentions
UCSF DataShare (RRID:SCR_004340) UCSF DataShare catalog, data or information resource, data repository, database, service resource, storage service resource Platform to facilitate sharing, discovery, and secure access to UCSF biomedical data. It''s powered by the Dataverse Network platform, which supports a variety of data types, as well as attribution and licensing needs. Researchers may share datasets, discover data from other labs, and reuse data. Links to tools and information that help scientists properly organize, manage, and document their datasets are also provided. biomedical data, neuroimaging, mri, cognitive impairment, dementia, data sharing, data set uses: Dataverse Network Project
has parent organization: University of California at San Francisco; California; USA
Aging Open unspecified license, The community can contribute to this resource, (UCSF-affiliated researcher), Data Use Agreement, Acknowledgement required nlx_35596 SCR_004340 SciCrunch Registry UCSF Dataverse Network 2026-11-07 11:55:46 1
PhysioToolkit
 
Resource Report
Resource Website
1+ mentions
PhysioToolkit (RRID:SCR_006868) PhysioToolkit data analysis software, data processing software, signal processing software, software application, software repository, software resource, source code, time-series analysis software Growing library of software for physiologic signal processing and analysis, detection of physiologically significant events using both classical techniques and novel methods based on statistical physics and nonlinear dynamics, interactive display and characterization of signals, creation of new databases, simulation of physiologic and other signals, quantitative evaluation and comparison of analysis methods, and analysis of nonequilibrium and nonstationary processes. A unifying theme of the research projects that contribute software to PhysioToolkit is the extraction of hidden information from biomedical signals, information that may have diagnostic or prognostic value in medicine, or explanatory or predictive power in basic research. Contributions of software to PhysioToolkit are welcome, http://physionet.org/guidelines.shtml#software-contributions signal processing, analysis, matlab, wfcb, data visualization, data mining, model, simulation, deidentification, data import, data export is related to: Physiobank PMID:10851218 GNU General Public License, The community can contribute to this resource nlx_152537 SCR_006868 SciCrunch Registry 2026-11-07 11:56:04 5
CancerModels.Org
 
Resource Report
Resource Website
1+ mentions
CancerModels.Org (RRID:SCR_023931) data or information resource, data repository, disease-related portal, portal, service resource, storage service resource, topical portal Cancer research platform that aggregates clinical, genomic and functional data from various types of patient derived cancer models, xenographs, organoids and cell lines. Open catalog of harmonised patient-derived cancer models. Standardises, harmonises and integrates clinical metadata, molecular and treatment-based data from academic and commercial providers worldwide. Data is FAIR and underpins generation and testing of new hypotheses in cancer mechanisms and personalised medicine development. PDCM Finder have expanded to organoids and cell lines and is now called CancerModels.Org. PDCM Finder was launched in April 2022 as successor of PDX Finder portal, which focused solely on patient-derived xenograft models. FAIR data, clinical data, genomic data, functional data, patient derived, cancer models, xenographs, organoids, cell lines, cancer NCI R01 CA089713;
NCI U24 CA204781 01;
NCI U24 CA253539 01
PMID:36399494 Free, Freely available r3d100012961 https://doi.org/10.17616/R31NJMHT SCR_023931 SciCrunch Registry PDCM Finder, PDX Finder 2026-11-07 12:01:12 8
AMP-AD Knowledge Portal
 
Resource Report
Resource Website
10+ mentions
AMP-AD Knowledge Portal (RRID:SCR_016316) AMP AD data repository, service resource, storage service resource Repository for distribution of various types of molecular data from human, cell-based and animal model biosamples, analytical results and research tools generated through multiple NIA-supported programs. Currently Portal supports AMP-AD Target Discovery and Preclinical Validation and MOVE-AD Consortia and translational center, MODEL-AD. multi-omic data, Alezheimer's disease, is recommended by: National Library of Medicine NIA Restricted SCR_016316 SciCrunch Registry AMP-AD, AMP-AD Knowledge Portal 2026-11-07 11:58:14 10
brainlife
 
Resource Report
Resource Website
10+ mentions
brainlife (RRID:SCR_020940) data or information resource, data repository, portal, project portal, service resource, storage service resource Free cloud platform for secure neuroscience data analysis. Allows to manage data, processing and results, sharing projects privately with collaborators or publicly with brainlife.io community.Promotes engagement and education in reproducible neuroscience.You can share your neuroimaging data publicly or privately. Data on brainlife.io is organized as Datatypes to allow interoperability between Apps. Secure neuroscience data analysis, manage data, sharing projects, data files mapping, interoperate works with: brainlife.io Google Cloud ;
Indiana University ;
Microsoft Investigator Fellowship ;
Microsoft Research Award ;
NIBIB R01 EB029272;
NSF BCS 1734853;
NSF IIS 1636893;
NSF IIS 1912270;
NSF OAC 1916518
Free, Freely available r3d100012397, r3d100013223 https://github.com/brainlife, https://github.com/brainlife/brainlife, https://doi.org/10.17616/R3KV0P, https://doi.org/10.17616/R31NJMP3 SCR_020940 SciCrunch Registry Brainlife 2026-11-07 11:59:48 20
ProteomicsDB
 
Resource Report
Resource Website
100+ mentions
ProteomicsDB (RRID:SCR_015562) data or information resource, database Database for the identification of the human proteome and its use across the scientific community. Users can browse proteins and chromosomes and contribute to the data repository. human proteome, human proteomics, proteomics database, human proteomics database, bio.tools, FASEB list is listed by: Debian
is listed by: bio.tools
is related to: ProteomeTools
has parent organization: Technical University of Munich; Bavaria; Germany
PMID:24870543 The research community can contribute to this resource r3d100013408, biotools:proteomicsdb https://bio.tools/proteomicsdb, https://doi.org/10.17616/R31NJMU8 SCR_015562 SciCrunch Registry 2026-11-07 12:03:15 180
Beth Israel Deaconess Medical Center BioDataBank Core Facility
 
Resource Report
Resource Website
Beth Israel Deaconess Medical Center BioDataBank Core Facility (RRID:SCR_028860) access service resource, biospecimen repository, core facility, material storage repository, service resource, storage service resource Core at BIDMC is a physical biorepository of deeply phenotyped human specimens that are linked to clinical diagnoses, a digital databank of omics and histological profiling generated from stored and annotated samples, and a virtual catalogue interface that will facilitate collaborations with the aim to catalyze innovative biomedical research and discovery. Goal of the BioDataBank Core is to build a biobank of Beth Israel Deaconess Medical Center (BIDMC)/BILH patient biospecimens & Omics data from our four Translational Research Hubs that are linked to clinical data for biomedical research directed towards advancing precision medicine. We will diversify the targeted biobank populations by engaging and collaborating with Beth Israel Lahey Health (BILH)-associated community health centers. ABRF, biorepository, phenotyped human specimens, clinical diagnoses, digital databank, omics and histological profiling, is listed by: ABRF CoreMarketplace
has parent organization: Harvard Medical School; Massachusetts; USA
ABRF_6138 https://coremarketplace.org/?FacilityID=6138&citation=1 SCR_028860 SciCrunch Registry , BioDataBank Core, Beth Israel Deaconess Medical Center BioDataBank Core 2026-11-07 12:08:00 0
University of Chicago Digestive Diseases Research Core Center Integrated Translational Research Core
 
Resource Report
Resource Website
University of Chicago Digestive Diseases Research Core Center Integrated Translational Research Core (RRID:SCR_015606) biomaterial supply resource, cell repository, material resource Core that serves as both a central repository for all the samples and data shared by the other cores and a catalyst for interdisciplinary research. integrated translational research, communication, digestive disease research is listed by: NIDDK Information Network (dkNET)
has parent organization: University of Chicago Digestive Diseases Research Core Center
is organization facet of: University of Chicago Digestive Diseases Research Core Center
digestive disease NIDDK P30 DK042086 Available to the research community SCR_015606 SciCrunch Registry 2026-11-07 12:01:44 0
LabWorm
 
Resource Report
Resource Website
LabWorm (RRID:SCR_014079) LW catalog, data or information resource, database, portal A comprehensive index for locating and compiling bioinformatics and online science tools. Users can browse, rate, share and save various tools listed in the LabWorm repository. Resources contain a short description, a list of related sites, comments, a list of users who have shared and rated the resource, and the main site URL. Resources may be saved to a personal toolbox collection. User news feeds can be customized to include new scientific literature from journals of choice. Users who want to utilize LabWorm tools to improve their own website can access the alternate Developer site. bioinformatics repository, collaboration, toolbox, catalog, online tool lists: PubMed
lists: DAVID
lists: Ensembl
lists: UniProt
lists: RCSB PDB Software Tools
lists: Kyoto Encyclopedia of Genes and Genomes Expression Database
lists: BioCyc
lists: CAZy
lists: bioRxiv
lists: Genolevures
Public, Free https://labworm.com/developers SCR_014079 SciCrunch Registry The LabWORM 2026-11-07 12:00:37 0
SEEK
 
Resource Report
Resource Website
10+ mentions
SEEK (RRID:SCR_002651) SEEK data access protocol, data management software, data processing software, data repository, data storage software, service resource, software application, software resource, source code, storage service resource, web service An open-source, web-based platform and suite of software tools for for sharing heterogeneous scientific research datasets, models or simulations, processes and research outcomes - and collaborations between scientists. It preserves associations between them, along with information about the people and organizations involved. Underpinning SEEK is the ISA infrastructure, a standard format for describing how individual experiments are aggregated into wider studies and investigations. Within SEEK, ISA has been extended and is configurable to allow the structure to be used outside of Biology. SEEK is incorporating semantic technology allowing sophisticated queries over the data, yet without getting in the way of your users. Access to the RESTful API to access the data within SEEK is available. data sharing, data set, systems biology, standard exchange format, metadata standard, data management, data citation, publishing software, bio.tools is listed by: OMICtools
is listed by: FORCE11
is listed by: bio.tools
is listed by: Debian
is related to: ISA Infrastructure for Managing Experimental Metadata
is related to: RightField
has parent organization: University of Manchester; Manchester; United Kingdom
has parent organization: Heidelberg Institute for Theoretical Studies; Heidelberg; Germany
BBSRC ;
BMBF
PMID:21943917 Free, Available for download, Freely available nlx_156079, OMICS_01012, biotools:seek http://www.force11.org/node/4806, https://bio.tools/seek SCR_002651 SciCrunch Registry SEEK Platform, SEEK for Science 2026-11-07 11:54:44 35
Omics Discovery Index
 
Resource Report
Resource Website
10+ mentions
Omics Discovery Index (RRID:SCR_010494) OmicsDI, DDI, DDICC data or information resource, database, portal Portal for dataset discovery across a heterogeneous, distributed group of transcriptomics, genomics, proteomics and metabolomics data resources. These resources span eight repositories in three continents and six organisations, including both open and controlled access data resources. dataset search, knowledge framework, knowledge discovery is affiliated with: MetabolomeXchange
is affiliated with: ProteomeXchange
has parent organization: University of California at San Diego; California; USA
is parent organization of: Integrated Datasets
NIA 1U24AI117966-01;
NIGMS 1U54GM114833-01
Free, Public nlx_158507, SCR_014747 SCR_010494 SciCrunch Registry Omics Discovery Index (OmicsDI) 2026-11-07 12:01:38 33
AFTOL
 
Resource Report
Resource Website
10+ mentions
AFTOL (RRID:SCR_004650) AFTOL biospecimen repository, material storage repository, service resource, storage service resource THIS RESOURCE IS NO LONGER IN SERVICE, documented Jan 13, 2022; To enhance the understanding of the evolution of the Kingdom Fungi, 1500+ species were sampled for eight gene loci across all major fungal clades, plus a subset of taxa for a suite of morphological and ultrastructural characters with resulting data: AFTOL Molecular Database (generated by WASABI - Web Accessible Sequence Analysis for Biological Inference), Blast search the AFTOL Database (generated by WASABI), AFTOL primers (generated by WASABI), AFTOL primers by species (generated by WASABI), AFTOL alignments, and the AFTOL Structural and Biochemical Database. Users may submit samples to the AFTOL project. AFTOL is a collaboration centered around four universities in the United States: Duke University (Francois Lutzoni and Rytas Vilgalys), Clark University (David Hibbett), Oregon State University (Joey Spatafora), and University of Minnesota (David McLaughlin). Participants throughout the world have donated vouchers, taxon samples, and gene sequences. The aim of the project is to reconstruct the fungal tree of life using all available data for eight loci (nuclear ribosomal DNA: LSU, SSU, ITS (including 5.8s, ITS1 and ITS2); RNA polymerase II: RPB1, RPB2; elongation factor 1-alpha; mitochondrial SSU rDNA, and mitochondrial ATP synthase protein subunit 6). A further objective of this study is to summarize and integrate current knowledge regarding fungal subcellular features within this new phylogenetic framework. The name of the bioinformatic package developed for AFTOL is WASABI which provides an efficient communication platform to facilitate the collection and dissemination of molecular data to (and from) the laboratories and participants. All molecular data can be viewed, downloaded, verified, and corrected by the participants of AFTOL. A central goal of the WASABI interface is to establish an automated analysis framework that includes basecalling of newly generated chromatograms, contig assembly, quality verification of sequences (including a local BLAST), sequence alignment, and congruence test. Gene sequences that pass all tests and are finally verified by their authors will undergo automated phylogenetic analysis on a regular schedule. Although all steps are initially carried out noninteractively, the users can verify and correct the results at any step and thus initiate the reanalysis of dependent data. cytology, morphology, phylogeny, ultrastructure, primer, alignment, blast, sequence, taxonomy, structure, biochemical, subcellular, organism-related portal, data analysis service, culture, sporocarp, dna, pcr product, molecular, molecule, gene sequence has parent organization: Oregon State University; Oregon; USA NSF EF-0228671;
NSF 0090301
PMID:17486962
PMID:21652303
The community can contribute to this resource, THIS RESOURCE IS NO LONGER IN SERVICE nlx_64804 SCR_004650 SciCrunch Registry Assembling the Fungal Tree of Life 2026-11-07 11:55:48 24
Deciphering Developmental Disorders
 
Resource Report
Resource Website
10+ mentions
Deciphering Developmental Disorders (RRID:SCR_006171) DDD biospecimen repository, data or information resource, disease-related portal, material storage repository, portal, research forum portal, service resource, storage service resource, topical portal The Deciphering Developmental Disorders (DDD) study aims to find out if using new genetic technologies can help doctors understand why patients get developmental disorders. To do this we have brought together doctors in the 23 NHS Regional Genetics Services throughout the UK and scientists at the Wellcome Trust Sanger Institute, a charitably funded research institute which played a world-leading role in sequencing (reading) the human genome. The DDD study involves experts in clinical, molecular and statistical genetics, as well as ethics and social science. It has a Scientific Advisory Board consisting of scientists, doctors, a lawyer and patient representative, and has received National ethical approval in the UK. Over the next few years, we are aiming to collect DNA and clinical information from 12,000 undiagnosed children in the UK with developmental disorders and their parents. The results of the DDD study will provide a unique, online catalogue of genetic changes linked to clinical features that will enable clinicians to diagnose developmental disorders. Furthermore, the study will enable the design of more efficient and cheaper diagnostic assays for relevant genetic testing to be offered to all such patients in the UK and so transform clinical practice for children with developmental disorders. Over time, the work will also improve understanding of how genetic changes cause developmental disorders and why the severity of the disease varies in individuals. The Sanger Institute will contribute to the DDD study by performing genetic analysis of DNA samples from patients with developmental disorders, and their parents, recruited into the study through the Regional Genetics Services. Using microarray technology and the latest DNA sequencing methods, research teams will probe genetic information to identify mutations (DNA errors or rearrangements) and establish if these mutations play a role in the developmental disorders observed in patients. The DDD initiative grew out of the groundbreaking DECIPHER database, a global partnership of clinical genetics centres set up in 2004, which allows researchers and clinicians to share clinical and genomic data from patients worldwide. The DDD study aims to transform the power of DECIPHER as a diagnostic tool for use by clinicians. As well as improving patient care, the DDD team will empower researchers in the field by making the data generated securely available to other research teams around the world. By assembling a solid resource of high-quality, high-resolution and consistent genomic data, the leaders of the DDD study hope to extend the reach of DECIPHER across a broader spectrum of disorders than is currently possible. microarray, sequencing, child, genome, chromosome, dna sequencing, ethics, interview, dna, saliva, clinical, genetics, gene, diagnosis, phenotype, clinical data, FASEB list is related to: DECIPHER
has parent organization: Wellcome Trust Sanger Institute; Hinxton; United Kingdom
Developmental disorder, Genetic disorder, Parent, Neurodevelopmental disorder, Congenital anomaly, Abnormal growth, Dysmorphic feature, Unusual behavioral phenotype Wellcome Trust ;
Health Innovation Challenge Fund
PMID:21679367 nlx_151673 SCR_006171 SciCrunch Registry Deciphering Developmental Disorders (DDD) 2026-11-07 11:56:05 42

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