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Reporting and representation of population descriptors in public RNA-seq databases.

Diverse and globally representative datasets are essential to genomic science and medicine. Here, we analyzed population descriptor metadata from RNA sequencing (RNA-seq) studies in two major public repositories: the Sequence Read Archive (SRA) and the Database of Genotypes and Phenotypes. We examined geographic and economic characteristics of institutions depositing the data and compared SRA-deposited descriptors to empirical estimates of genetic ancestry and to those reported in publications, analyzing trends over time. We found that 55% of RNA-seq samples were deposited by United States (US) institutions and 90% by institutions in high-income countries. Only 3% of SRA samples were associated with population descriptors, and among those with US Census terms, 69% were labeled as White. Among samples with continental descriptors, 56% were labeled as European. Our analyses emphasize widespread bias in the composition of public RNA-seq datasets and, more generally, a lack of consistent and careful reporting of population descriptors needing urgent improvement.

Humans

Underrepresented populations in genomic research: a qualitative study of researchers' perspectives.

BACKGROUND: The lack of diversity in genomic data limits researchers' ability to investigate the relationships between genetic profiles, disease manifestations, and responses to new therapies. As a result, innovations in treatment could have potentially harmful effects on a significant portion of the population due to incomplete or inaccurate genomic data. In addition, the lack of harmonization in the use of population descriptors in genomic studies raises both ethical and scientific concerns regarding which descriptors should be used to study and recruit underrepresented populations. Therefore, understanding the factors contributing to the lack of diversity in genomic research is an urgent scientific, clinical, and public health priority. This study aims to explore the social and contextual factors influencing the participation of underrepresented populations in genomic research, from the perspective of researchers in the field. METHODS: A total of 13 semi-structured interviews were conducted with researchers experienced in genomic research in Canada and fluent in either French or English. The interview transcripts were analyzed using thematic analysis. RESULTS: Researchers identified several factors contributing to the low participation of underrepresented populations in genomic research, with one key factor being the geographic distribution of research institutions and the disconnect between research efforts and the communities being studied. To address this issue, participants stressed the importance of moving away from colonial practices, such as conducting research on a community without consulting its members in the design phase. Furthermore, it was suggested that existing diversity, equity, and inclusion policies alone were insufficient to effectively address the challenge. Lastly, the study also highlighted a potential link between how study populations are categorized and the willingness of underrepresented groups to participate in genomic research. CONCLUSION: Although researchers are generally aware of the literature on the causes, consequences, and potential solutions for increasing participation, confusion remains regarding the use of population descriptors. Our findings highlight the need for improved education, greater consensus, and expanded dialogue within the genomic research community to promote the harmonization of population descriptors.

Humans

Guidelines for T cell nomenclature.

Advances in T cell biology have revealed heterogeneity among T cell populations that is not captured by existing general nomenclature. This issue has caused an ad hoc broadening of core T cell subset definitions and the invention of new subset designations that have not been uniformly delineated. To address this issue, in this Consensus Statement, we propose guidelines that serve three goals. First, they advocate that primary research reports define the experimental basis by which relevant subsets are designated in the methods section of each study. Second, they provide standardized definitions for existing subset designations in popular use, and common experimental criteria for defining each subset are noted. Last, they present an alternative 'modular nomenclature' paradigm. The newly proposed modular nomenclature eschews conceptualization of antigen-experienced T cells as belonging to a few idealized subsets, and the nomenclature instead simply indicates individual biological properties present in a T cell population with brief descriptors. Collectively, these guidelines intend to enhance transparency in the literature while facilitating clearer communication of findings and concepts to researchers, students and clinicians.

Terminology as Topic

Characterization of murine T and B cells by computerized microphotometric analysis.

Splenocytes and column-separated T cells are differentiated into subpopulations of T and B cells on the basis of computer-assisted morphometric analysis of Feulgen-positive nuclear DNA. Differentiation is based upon the analysis of computable image information related to DNA distribution patterns. The technique at the present time does not allow immunofluorescent and morphometric measurements to be made on a given cell. However, the differentiation obtained by using descriptors proven capable of detecting pure populations of T and B cells shows excellent agreement with the differentiation obtained by immunofluorescence analysis. The descriptors and decision rules used the discrimination among splenocytes are reproducible from one experiment to another and remain valid for the differentiation of lymphocytes from animals of different sex and strain.

Animals

Cross validation of the 2-8/8-2 MMPI code type for young adult psychiatric outpatients.

Young adults attending a college student mental health center and obtaining 2 and 8 as their highest scale elevations (and not scale 7 as the third elevation) on the MMPI were compared to other patients at the center on 175 descriptors obtained from intake interviews. Those items which discriminated (chi2, p less than .05) 2-8/8-2 patients from others in the sample are presented in relationship to the descriptors obtained for this code type by other investigators. The statements generated by the Marks and Seeman interpretive system for adults were then reanalyzed by the Chi Square method to demonstrate the differential effect of statistical method upon code type interpretation. Although previously established correlates of 2-8/8-2 profiles were partially validated, a number of different descriptors emerge for males and females in this population. Questions are raised and discussed concerning methodologies for generating interpretive statements for various clinical populations.

Adolescent

Behavioral correlates of infrequent two-point MMPI code types at a university mental health center.

Presented interpretive correlates for 95 college students who were seeking mental health services and who generated the following infrequently occurring MMPI code types: Spike 2, 2-0/0-2, 2-4/4-2, 2-6/6-2, 3-4/4-3, 3-9/9-3, 4-7/7-4, 6-7/7-6, 7-9/9-7, and Spike O. Descriptors were derived from intake interview and mental status information collected without knowledge of the MMPI profile. Those items that discriminated between each profile type and the remainder of the student mental health population (Chi Square, alpha = .05, .01) are presented as tentative interpretive descriptors that may be helpful in generating hypotheses for use with college student psychiatric outpatients.

Female

Study of the peripheral blood leucocyte population by Fourier analysis of the cell volume histogram.

The Fourier transformation is proposed as a technique for the description of cell volume histogram data. In order to test the applicability of this transformation, peripheral blood leucocytes were studied as model populations and the technique assessed by determining the extent to which the Fourier coefficients could be applied as descriptors of various pathologic abnormalities of the differential leucocyte count. Histograms of leucocyte volume distribution were plotted for 87 cases with a variety of abnormalities of the peripheral blood leucocyte population. These histograms were submitted to Fourier analysis and the coefficients thus obtained were used as the basis of a multivariate classification system designed to distinguish certain predefined abnormalities of the differential count. The results obtained suggest that Fourier analysis may prove a valuable technique for the interpretation of cell volume histogram data, and its potential applications are discussed.

Cell Count

Measuring the attainment of primary care.

Specification of the characteristics unique to primary care, as distinguished from secondary and tertiary care, has been difficult. Descriptions based upon the nature of problems actually seen by practitioners or those based upon the way in which patients come for care do not adequately distinguish primary care from nonprimary care. Definitions of primary care have stressed its first-contact aspects, coordinating features, comprehensiveness, and longitudinality. While these phenomena are adequate as gross descriptors, the inability to quantify them reduces their usefulness to planners and evaluators. Offered as a solution to this problem is a model which permits these descriptors to be defined as specific interrelationships among separate aspects of the structure (accessibility, range of services, identification of the eligible population, and continuity), process (utilization and problem recognition), and outcome of care.

Comprehensive Health Care

Quantitative analysis of flow microfluorometric data for screening gynecologic cytology specimens.

Gynecologic cytology specimens that included the entire spectrum of cervical cytology classification were stained with a combination of propidium iodide and fluorescein isothiocyanate, then analyzed using a flow microfluorometer to measure nucleic acid and protein content, respectively. Numerous descriptors of the resulting two parameter distribution (nucleic acid versus protein) were defined. These descriptors included assessment of the presence or absence of abnormal cells. They also included measures of the staining intensity and dispersion of the normal squamous cell population and the intensity of inflammatory response in the cell population. Relative percentages of inflammatory and epithelial cells were demonstrated to effect the screening performance of this system only in borderline lesions. Decision tree algorithms allowed optimization of the selected parameters for screening logic of normal-abnormal decisions on a specimen-by-specimen basis. In addition, quantitative definitions of specimen adequacy were determined. Appropriate controls for batch staining of specimens were evaluated. These results of applying pattern recognition techniques to flow microfluorometer multiparameter data demonstrate that considerably more information about cell populations and subpopulations can be extracted than heretofore possible.

Adolescent