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1.
Nature ; 604(7905): 310-315, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-35388217

RESUMO

Comprehensive genome annotation is essential to understand the impact of clinically relevant variants. However, the absence of a standard for clinical reporting and browser display complicates the process of consistent interpretation and reporting. To address these challenges, Ensembl/GENCODE1 and RefSeq2 launched a joint initiative, the Matched Annotation from NCBI and EMBL-EBI (MANE) collaboration, to converge on human gene and transcript annotation and to jointly define a high-value set of transcripts and corresponding proteins. Here, we describe the MANE transcript sets for use as universal standards for variant reporting and browser display. The MANE Select set identifies a representative transcript for each human protein-coding gene, whereas the MANE Plus Clinical set provides additional transcripts at loci where the Select transcripts alone are not sufficient to report all currently known clinical variants. Each MANE transcript represents an exact match between the exonic sequences of an Ensembl/GENCODE transcript and its counterpart in RefSeq such that the identifiers can be used synonymously. We have now released MANE Select transcripts for 97% of human protein-coding genes, including all American College of Medical Genetics and Genomics Secondary Findings list v3.0 (ref. 3) genes. MANE transcripts are accessible from major genome browsers and key resources. Widespread adoption of these transcript sets will increase the consistency of reporting, facilitate the exchange of data regardless of the annotation source and help to streamline clinical interpretation.


Assuntos
Biologia Computacional , Bases de Dados Genéticas , Genômica , Genoma , Humanos , Disseminação de Informação , Anotação de Sequência Molecular , National Library of Medicine (U.S.) , Estados Unidos
2.
J Med Libr Assoc ; 110(2): 279-280, 2022 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-35440902

RESUMO

LitCovid. National Center for Biotechnology Information, US National Library of Medicine, 8600 Rockville Pike, Bethesda, MD 20894; https://www.ncbi.nlm.nih.gov/research/coronavirus/; free. iSearch COVID-19 portfolio. Office of Portfolio Analysis, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892; https://icite.od.nih.gov/covid19/search/; free. COVID-19 Global literature on coronavirus disease. World Health Organization, Avenue Appia 20, 1211 Geneva; https://search.bvsalud.org/global-literature-on-novel-coronavirus-2019-ncov/; free.


Assuntos
COVID-19 , Humanos , National Institutes of Health (U.S.) , National Library of Medicine (U.S.) , Publicações , Estados Unidos
3.
Stud Health Technol Inform ; 288: 3-11, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102823

RESUMO

This overview summary of the Informatics Section of the book Transforming biomedical informatics and health information access: Don Lindberg and the U.S. National Library of Medicine illustrates how the NLM revolutionized the field of biomedical and health informatics during Lindberg's term as NLM Director. Authors present a before-and-after perspective of what changed, how it changed, and the impact of those changes.


Assuntos
Informática Médica , Acesso à Informação , Livros , National Library of Medicine (U.S.) , Estados Unidos
4.
Stud Health Technol Inform ; 288: 32-42, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102826

RESUMO

The Integrated Academic/Advanced Information Systems (IAIMS) program began in 1983 and was based on a study by the Association of American Medical Colleges (AAMC). Donald A.B. Lindberg M.D. was a member of the AAMC Advisory Committee. The U.S. National Library of Medicine (NLM) grants for IAIMS were initiated in 1984 the same year Dr. Lindberg became Director of the NLM. This chapter presents an overview of IAIMS and its progression through three stages with Dr. Lindberg's leadership.


Assuntos
Centros Médicos Acadêmicos , Sistemas Integrados e Avançados de Gestão da Informação , Sistemas de Informação , National Library of Medicine (U.S.) , Estados Unidos
5.
Stud Health Technol Inform ; 288: 74-84, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102830

RESUMO

Precision medicine offers the potential to improve health through deeper understandings of the lifestyle, biological, and environmental influences on health. Under Dr. Donald A.B. Lindberg's leadership, the U.S. National Library of Medicine (NLM) has developed the central reference resources for biomedical research and molecular laboratory medicine that enable precision medicine. The hosting and curation of biomedical knowledge repositories and data by NLM enable quality information reachable for providers and researchers throughout the world. NLM has been supporting the innovation of electronic health record systems to implement computability and secondary use for biomedical research, producing the scale of linked health and molecular datasets necessary for precision medicine discovery.


Assuntos
Medicina de Precisão , National Library of Medicine (U.S.) , Estados Unidos
6.
Stud Health Technol Inform ; 288: 100-112, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102832

RESUMO

Donald A.B. Lindberg M.D. arrived at the U.S. National Library of Medicine in 1984 and quickly launched the Unified Medical Language System (UMLS) research and development project to help computer understand biomedical meaning and to enable retrieval and integration of information from disparate electronic sources, e.g., patient records, biomedical literature, knowledge bases. This chapter focuses on how Lindberg's thinking, preferred ways of working, and decision-making guided UMLS goals and development and on what made the UMLS markedly "new and different" and ahead of its time.


Assuntos
Bases de Conhecimento , Unified Medical Language System , Humanos , National Library of Medicine (U.S.) , Estados Unidos
7.
Stud Health Technol Inform ; 288: 156-166, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102837

RESUMO

Donald A.B. Lindberg M.D. arrived as Director, U.S. National Library of Medicine (NLM) in late 1984 with the intention of implementing a physician-friendly interface to MEDLINE, a prime example of his interest in making NLM information services more directly useful in medical care. By early 1986, NLM's Grateful Med, an inexpensive PC search interface to MEDLINE useful for health professionals, had joined the group of end-user systems for searching MEDLINE that emerged in the 1980s. This chapter recounts Grateful Med's rapid iterative development and the subsequent campaign to bring it to attention of health professionals. It emphasizes Lindberg's role, the challenges faced by those introducing and using the interface in a pre-Internet world, and some longer-term effects of the effort to expand health professionals' use of MEDLINE during the decade from 1986 to 1996.


Assuntos
Grateful Med , Microcomputadores , Pessoal de Saúde , Humanos , MEDLINE , National Library of Medicine (U.S.) , Estados Unidos
8.
Stud Health Technol Inform ; 288: 201-212, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102841

RESUMO

Donald A.B. Lindberg M.D., Director of the U.S. National Library of Medicine (NLM) from August 1984-March 2015, had a remarkable vision for NLM's scope, goals, and function. This vision resulted in many external partnerships and initiatives with the publishing industry, commercial and non-profit, journal editors, and professional organizations. These partnerships ranged from ongoing collaboration and dialogue, such as the NLM Publisher's Committee and the International Committee of Medical Journal Editors (ICMJE). to the more practical, such as the creation of HINARI and the Emergency Access Initiative (EAI). Dr. Lindberg fostered partnerships outside the NLM to expand the use and reach of Library resources, including MEDLINE and ClinicalTrials.gov to support innovations in the processes that build them, and improve the quality of biomedical journals. Dr. Lindberg also encouraged the use of technology to enhance medical information and supported the early development of fully interactive publications. Attitudes that contained a measure of skepticism and distrust faded as collaborators came to have a better understanding of both NLM and their partners. This chapter discusses these relationships and accomplishments that NLM achieved working with publishers and other creators and disseminators of medical information under Dr. Lindberg's leadership.


Assuntos
Editoração , Comunicação Acadêmica , Coleta de Dados , MEDLINE , National Library of Medicine (U.S.) , Estados Unidos
9.
Stud Health Technol Inform ; 288: 263-272, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102847

RESUMO

In June 1993, the National Library of Medicine (NLM) joined with the National Institutes of Health's (NIH) Office of AIDS Research (OAR), and the National Institute of Allergy and Infectious Diseases (NIAID) to host a conference at a pivotal time in the HIV/AIDS epidemic to understand better the information needs of five major constituency groups: clinical researchers; clinical providers; news media and the public; patients; and the affected community. NLM's director, Donald A.B. Lindberg M.D., and staff sought to identify new program possibilities benefitting from the input of current and potential users of the Library's information services. Conference recommendations led to a key NLM policy change providing cost-free access to all AIDS data, and the establishment of the HIV/AIDS Community Information Outreach Program (ACIOP), which enabled new partnerships with local community-based organizations serving the affected community. Uniquely funded and long running, more than 300 ACIOP projects have been supported to-date. These projects have improved awareness and use of national HIV/AIDS information resources; enhanced information seeking skills; developed locally generated information resources; and enhanced the capacity of community-based organizations to use new information and computer technologies providing access to essential information resources and services.


Assuntos
Síndrome de Imunodeficiência Adquirida , Relações Comunidade-Instituição , Acesso à Informação , Síndrome de Imunodeficiência Adquirida/terapia , Humanos , Serviços de Informação , National Library of Medicine (U.S.) , Estados Unidos
10.
Stud Health Technol Inform ; 288: 12-22, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102824

RESUMO

As a young pathologist, Donald A.B. Lindberg, M.D., tirelessly sought scientific solutions to clinical and research problems. Directing several clinical laboratories at the University of Missouri in Columbia, Dr. Lindberg developed the world's first computerized laboratory information system, speeding analysis and reporting. He directed his team in building computer systems to help clinicians retrieve medical knowledge, enable patients to find information about personal or family health issues, and provide expert automated assistance to physicians in reaching differential diagnoses outside their specialties. Developing superior functionalities with the limited information technologies of the time, Dr. Lindberg's pioneering work in Columbia foreshadowed his subsequent inspired leadership as Director of the United States National Library of Medicine.


Assuntos
Sistemas de Informação em Laboratório Clínico , Informática Médica , Medicina , Humanos , Liderança , Masculino , National Library of Medicine (U.S.) , Estados Unidos
11.
Stud Health Technol Inform ; 288: 23-31, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102825

RESUMO

Among the many contributions of Donald A.B. Lindberg was his work on behalf of a variety or professional organizations in the field of biomedical and health informatics. These began during his early days at the University of Missouri and continued throughout his 30 years at the National Library of Medicine. This chapter summarizes that work, which occurred both through his personal efforts and through the impact of the NLM under his leadership. Examples include his role in the development of organizations themselves (e.g., the International Medical Informatics Association, the American College of Medical Informatics, and the American Medical Informatics Association) and also his contributions to the professional scientific meetings that have advanced the field (e.g., the Symposium on Computer Applications in Medical Care, MEDINFO, and the AMIA Annual Symposium).


Assuntos
Informática Médica , Sociedades Científicas , Humanos , Liderança , National Library of Medicine (U.S.) , Estados Unidos
12.
Stud Health Technol Inform ; 288: 43-50, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102827

RESUMO

Through his visionary leadership as Director of the U.S. National Library of Medicine (NLM), Donald A.B. Lindberg M.D. influenced future generations of informatics professionals and the field of biomedical informatics itself. This chapter describes Dr. Lindberg's role in sponsoring and shaping the NLM's Institutional T15 training programs.


Assuntos
Informática Médica , Educação , Liderança , National Library of Medicine (U.S.) , Estados Unidos
13.
Stud Health Technol Inform ; 288: 51-63, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102828

RESUMO

The U.S. National Library of Medicine's Biomedical Informatics Short Course ran from 1992 to 2017, most of that time at the Marine Biological Laboratory in Woods Hole, Massachusetts. Its intention was to provide physicians, medical librarians and others engaged in health care with a basic understanding of the major topics in informatics so that they could return to their home institutions as "change agents". Over the years, the course provided week-long, intense, morning-to-night experiences for some 1,350 students, consisting of lectures and hands-on project development, taught by many luminaries in the field, not the least of which was Donald A.B. Lindberg M.D., who spoke on topics ranging from bioinformatics to national policy.


Assuntos
Biologia Computacional , Bibliotecários , Informática Médica , Biologia Computacional/educação , Coleta de Dados , Georgia , Humanos , Informática Médica/educação , National Library of Medicine (U.S.) , Estados Unidos
14.
Stud Health Technol Inform ; 288: 64-73, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102829

RESUMO

The U.S. National Library of Medicine's (NLM) funding for biomedical informatics research in the 1980s and 1990s focused on clinical decision support systems, which were also the focus of research for Donald A.B. Lindberg M.D. prior to becoming NLM's director. The portfolio of projects expanded over the years. At NLM, Dr. Lindberg supported various large infrastructure programs that enabled biomedical informatics research, as well as investigator-initiated research projects that increasingly included biotechnology/bioinformatics and health services research. The authors review NLM's sponsorship of research during Dr. Lindberg's tenure as its Director. NLM's funding significantly increased in the 2000's and beyond. Authors report an analysis of R01 topics from 1985-2016 using data from NIH RePORTER. Dr. Lindberg's legacy for biomedical informatics research is reflected by the research NLM supported under his leadership. The number of R01s remained steady over the years, but the funds provided within awards increased over time. A significant amount of NLM funds listed in RePORTER went into various types of infrastructure projects that laid a solid foundation for biomedical informatics research over multiple decades.


Assuntos
Biologia Computacional , Informática Médica , Apoio à Pesquisa como Assunto , Liderança , National Library of Medicine (U.S.) , Estados Unidos
15.
Stud Health Technol Inform ; 288: 85-99, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102831

RESUMO

When Donald A.B. Lindberg M.D. became Director in 1984, the U.S. National Library of Medicine (NLM) was a leader in the development and use of information standards for published literature but had no involvement with standards for clinical data. When Dr. Lindberg retired in 2015, NLM was the Central Coordinating Body for Clinical Terminology Standards within the U.S. Department of Health and Human Services, a major funder of ongoing maintenance and free dissemination of clinical terminology standards required for use in U.S. electronic health records (EHRs), and the provider of many services and tools to support the use of terminology standards in health care, public health, and research. This chapter describes key factors in the transformation of NLM into a significant player in the establishment of U.S. terminology standards for electronic health records.


Assuntos
Registros Eletrônicos de Saúde , Troca de Informação em Saúde , National Library of Medicine (U.S.) , Humanos , Liderança , Logical Observation Identifiers Names and Codes , Saúde Pública , RxNorm , Estados Unidos
16.
Stud Health Technol Inform ; 288: 113-121, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102833

RESUMO

The highest priority new initiative resulting from the 1985-86 National Library of Medicine Long Range Planning exercise initiated by NLM Director Dr. Donald A.B. Lindberg was the creation of new information resources and services related to molecular biology and genetics, termed "biotechnology information". Beginning with existing NLM resources and research projects associated with molecular data, and with Lindberg's enthusiastic support, the institution launched a Congressionally-mandated Center that has become an essential part of 21st century biomedical science.


Assuntos
Biotecnologia , Biologia Computacional , National Library of Medicine (U.S.) , Coleta de Dados , Projeto Genoma Humano , Estados Unidos
17.
Stud Health Technol Inform ; 288: 122-133, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102834

RESUMO

From 1992 to 1995 Donald A.B. Lindberg M.D. served concurrently as the founding director of the National Coordination Office (NCO) for High Performance Computing and Communications (HPCC) and NLM director. The NCO and its successors coordinate the Presidential-level multi-agency HPCC research and development (R&D) program called for in the High-Performance Computing Act of 1991. All large Federal science and technology R&D and applications agencies, including those involved in medical research and health care, participate in the now-30-year-old program. Lindberg's HPCC efforts built on his pioneering work in developing and applying advances in computing and networking to meet the needs of the medical research and health care communities. As part of NLM's participation in HPCC, Lindberg promoted R&D and demonstrations in telemedicine, including testbeds, medical data privacy, medical decision-making, and health education. That telemedicine technologies were ready to meet demand during the COVID-19 pandemic is testament to Lindberg's visionary leadership.


Assuntos
Redes de Comunicação de Computadores , National Library of Medicine (U.S.) , Telemedicina , COVID-19 , Humanos , Liderança , Informática Médica , Pandemias , Estados Unidos
18.
Stud Health Technol Inform ; 288: 134-140, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102835

RESUMO

This paper gives a flavor of Dr. Donald A.B. Lindberg's view of the expanding role of libraries, his curiosity, and his tolerance for taking educated risks, through the creation and nurturing of National Library of Medicine's Visible Human Project. That project produced the Visible Man and Visible Woman datasets and a suite of tools for presenting and analyzing those and similar datasets. The results are used in teaching anatomy and other medical school courses and in software from the open-source Insight Tool Kit (ITK) that is included in many if not most volume-reconstructing systems. This story is a bit personal. From the beginning we recognized and understood each other since we were both "boys from Brooklyn".


Assuntos
Anatomia , Software , Projetos Ser Humano Visível , Anatomia/educação , Feminino , Humanos , Masculino , National Library of Medicine (U.S.) , Estados Unidos
19.
Stud Health Technol Inform ; 288: 143-155, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102836

RESUMO

When Donald A.B. Lindberg M.D. became Director of the U.S. National Library of Medicine in 1984, trained searchers, primarily librarians, conducted less than three million searches of NLM databases. They paid for their fair share of the commercial telecommunications costs to reach NLM's computer system. In 2015 when Lindberg retired, millions of scientists, health professionals, patients, members of the public, and librarians conducted billions of free searches of NLM's greatly expanded electronic resources via the Internet. Lindberg came to NLM intending to expand access to biomedical and health information along multiple dimensions: reaching more users, providing more types and volumes of information and data; and improving the conceptual, technical, and organizational connections needed to provide information to users when and where it is needed. By any measure he and NLM were spectacularly successful. This chapter discusses some key decisions and developments that contributed to that success.


Assuntos
Acesso à Informação , Informática Médica , National Library of Medicine (U.S.) , Bases de Dados Factuais , Pessoal de Saúde , Humanos , Bibliotecários , Pesquisa , Estados Unidos
20.
Stud Health Technol Inform ; 288: 167-177, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35102838

RESUMO

When Donald A.B. Lindberg M.D. was sworn in as Director of the National Library of Medicine (NLM) in 1984, MEDLINE, NLM's online database of citations and abstracts to biomedical journal articles, was searched primarily by librarians trained to use its command language interface. There were fees for searching, primarily to recover the cost of using commercial value-added telecommunications networks. Thirteen years later, in 1997, MEDLINE became free to anyone with an Internet connection and a Web browser. This chapter provides an insider's view of how Dr. Lindberg's vision and leadership - combined with new technology, astute handling of policy issues, and key help from political supporters and influential advocates - enabled a tremendous expansion in access to biomedical and health information for scientists, health professionals, patients, and the public.


Assuntos
MEDLINE , National Library of Medicine (U.S.) , Acesso à Informação , Redes de Comunicação de Computadores , Pessoal de Saúde , Humanos , Liderança , Bibliotecários , Estados Unidos
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