SEARCH · Search PubMed

Results for “Scoring framework”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

SourceResearch connectionFrom yearThrough year

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 91 records · Page 5Linked to original sources

PubMed1997

Ela 1.0--a framework for life-cycle impact assessment developed by the Fraunhofer-Gesellschaft. Part A: The conceptual framework.

The Fraunhofer-Gesellschaft has sponsored the development of a conceptual and flexible, computer aided tool to perform the impact assessment within LCA (life cycle assessment) for technical products and processes. The developed general framework "Ela 1.0" (environmental loads analysis) consists of four elements: the selection of appropriate impact categories, the categorization of emissions and wastes leaving the systems as well as of resource and energy consumption, the characterization and an analysis of the results of the impact assessment. The latter compares the product-based emissions with the total of emissions of a region such as Germany, the EU or OECD countries. The framework Ela 1.0 considers the environmental categories: global warming, ozone depletion, resource and energy consumption, wastes, eutrophication (including COD and BOD as measured parameters), acidification, ecotoxicity, ozone formation and human toxicity. The latter categories are handled by listing of precursors for ozone formation, and by listing of emissions scored according to their human hazard potential. The options, possibilities and limitations of the conceptual framework are presented in part A of a series of publications.

Acid Rain↗

PubMed1988

The Level of Expressed Emotion Scale: a new measure of expressed emotion.

The Level of Expressed Emotion (LEE) scale was developed to provide an index of the perceived emotional climate in a person's influential relationships. Unlike existing measures, the scale was constructed on the basis of a conceptual framework described by expressed emotion theorists. In addition to providing an overall score, the 60-item scale assesses the following four characteristic attitudes or response styles of significant others: Intrusiveness, emotional response, attitude toward illness, and tolerance/expectations. The scale underwent extensive psychometric development procedures: (1) theoretically based item generation; (2) pilot testing with normal and psychiatric populations to select the final items; and (3) construct validation within a schizophrenic population. The results were quite favorable and indicate that the LEE scale has sound psychometric properties of internal consistency; reliability; independence from sex, age, and amount of contacts; and construct validity.

Adaptation, Psychological↗

PubMed2026

Partitioned blood pressure polygenic risk reveals differential genetic effects of tissue-specific enhancers and their interactions on cardiovascular disease.

Polygenic risk scores (PRS) compress genome-wide associations into a single predictor, but this aggregation obscures the distinct biological mechanisms through which genetic variation shapes complex traits. Here we introduce a framework that additively decomposes a trait's PRS, without loss of SNP heritability, into independent components defined by the tissue-specific and tissue-agnostic cis-regulatory elements (CREs) in which its variants act. Applied to blood pressure (BP) using ~0.5 million CREs across four BP-relevant tissues (adrenal gland, artery, heart, kidney), the framework reveals that regulatory effects are globally additive across tissues yet locally non-additive, and that the resulting partitioned scores carry pronounced, reproducible heterogeneity in their effects on BP and cardiovascular outcomes. We show this heterogeneity reflects gene-environment interactions, and trace one example to its mechanism: a kidney-CRE-partitioned score is protective against coronary artery disease and myocardial infarction through an interaction between ATP2B1 and antihypertensive medication. Explicitly modeling these interactions improves prediction and transferability, and tissue-focused partitioning increases power to resolve causal genes and reveals genes such as ADAMTS8 with antagonistic effects across BP components. Validated in an independent All of Us cohort, these findings recast the PRS from a blunt aggregate predictor into a mechanistic probe of context-dependent genetic architecture.

Journal Article↗

PubMed1985

Preliminary experiences with WHO's ICIDH; a user's report.

A simple feasibility study of the ICIDH was conducted: 1148 patients were classified by their physician, the opinion of the physicians about the feasibility of the ICIDH was recorded, and finally 21 patients were classified twice to assess reliability. The results suggest that the I code is feasible for patients with locomotor disorders. The use of the D code presented several problems. It is very time-consuming and reliability of D code assignments seems to be low. The feasibility of the D code can probably be improved if the numerical framework is reshaped. The H code seems to allow for simple meaningful scorings, although we tended to use it as a substitute for the impractical D code, rather than as an indicator of handicap.

Persons with Disabilities↗

PubMed1996

Health plan satisfaction and risk of disenrollment among social/HMO and fee-for-service recipients.

Health plan satisfaction among the elderly is affected by multiple individual and locational factors. We used a general behavioral framework of predisposing, enabling, and service use factors to produce adjusted satisfaction scores. These then were included in a logistic analysis to determine the effect of satisfaction on continued membership in social health maintenance organizations (S/HMOs) or continued participation in fee-for-service care. S/HMO members, after one year in the plan, generally reported satisfaction scores comparable to Medicare beneficiaries in fee-for-service care. Satisfaction with perceived physician quality and interpersonal relationships with the providers reduced the risk of disenrollment. Functional impairment reduced the likelihood of disenrollment, but this effect varied by community. Being impaired was protective in communities with established HMOs. In markets where HMOs were emerging or where intensive HMO competition was beginning, disability increased the likelihood of changing current coverage. S/HMO membership, after adjusting for the market area's general disenrollment propensities, had varying effects. Being a newly formed plan was not a consistent predictor of higher disenrollment rates.

Aged↗

PubMed2026

Pan-Cancer Quantification of Driver Alteration Transmission Across Molecular Layers Reveals Limited Propagation to Protein Abundance.

Precision oncology relies primarily on DNA-level alterations for therapeutic decisions, but the extent to which driver mutations propagate to protein abundance has not been systematically evaluated. Here, I developed a regression-based transmission score (TS_R 2) to quantify driver alteration signal propagation across DNA, mRNA, and protein layers. Applying this framework to matched genomic, transcriptomic, proteomic, and phosphoproteomic data from 754 Clinical Proteomic Tumor Analysis Consortium (CPTAC) tumors across seven cancer types, I analyzed 86 driver gene-cancer type pairs, of which 83 were evaluable for the full two-layer transmission score. I employed covariate-adjusted regression for each molecular transition, assessing significance via permutation testing (n = 1000). Mixed-effects modeling then partitioned gene-intrinsic from cancer-type-dependent effects. Only 5 of 83 evaluable pairs (6%) demonstrated high transmission (TS_R 2 > 0.05), with receptor tyrosine kinases (EGFR, FGFR2) exemplifying this class. The primary bottleneck occurred at the mutation-mRNA transition, not mRNA-protein translation. Gene identity accounted for 49% of transmission efficiency variance, nearly double the contribution of cancer type (29%). Copy number alterations transmitted signals 13.8-fold more efficiently than point mutations, and truncating mutations showed higher transmission than missense variants (Wilcoxon p = 0.005). Microsatellite instability attenuated mRNA-protein transmission in UCEC and COAD. These findings demonstrate that many driver alterations show limited propagation to protein abundance. This challenges DNA-only interpretations in precision oncology and provides a framework for integrated functional driver prioritization.

Humans↗

PubMed1985

Perioperative functions. Classification of knowledge and required skills.

The study results form a beginning framework from which values of resource appropriateness could be developed, which was the original intent of this study. An algorithm could be designed to score an individual's formal and informal training in specific skills as they relate to the O-Types identified. These results could be translated into resource appropriateness scores under each of the four factors. The results also provide a means for simplifying categories of the Operating Room Staffing Model and provide a beginning framework to assess resource appropriateness.

Clinical Competence↗

PubMed2026

Primer design through submodular function estimation.

MOTIVATION: Multiplex PCR-based enrichment is widely used in viral genome sequencing and pathogen surveillance. However, designing large sets of primers that maximize genome coverage while minimizing primer-primer interactions remains a major computational challenge. Existing methods such as SADDLE and Olivar use heuristics to optimize a Badness score for primer dimers but lack theoretical guarantees on solution quality. RESULTS: We introduce PRISM, a new framework that formulates multiplex primer design as a constrained submodular maximization problem. Our method defines an objective that balances genome coverage and dimer risk, and applies a local search algorithm with a constant-factor approximation guarantee. Evaluations on viral genome datasets demonstrate that PRISM consistently achieves lower Badness scores compared to PrimalScheme, Olivar, and primerJinn. These results highlight the scalability and theoretical rigor of submodular optimization in primer design. AVAILABILITY: PRISM is open-source and available at https://github.com/yhhan19/PRISM-new. The experimental data, scripts, and results used in this paper are archived on Figshare at https://doi.org/10.6084/m9.figshare.32806499.

Algorithms↗

PubMed2025

A comprehensive evaluation of candidate genetic polymorphisms in a large histologically characterized MASLD cohort using a novel framework.

BACKGROUND: There is a substantial heritable component to metabolic dysfunction-associated steatotic liver disease (MASLD), and several genetic variants that promote MASLD development or associate with its severity have been reported. These associations vary in terms of their effect size and degree of replication. METHODS: We developed a framework to classify previously identified MASLD genetic polymorphisms into 4 tiers based on effect size and extent of replication in the literature. We tested the association between "tier 1" single-nucleotide polymorphisms (OR ≥1.5, replicated in >2 independent studies) and biopsy measures of MASLD severity in a large, well-characterized histologic cohort of MASLD patients (n=3094). RESULTS: Across 19 "tier 1" variants reflecting 11 genetic loci, only those in the PNPLA3-SAMM50-PARVB locus showed significant associations with biopsy-proven fibrosis severity and NAFLD activity score; the highest risk was for the rs738409 p.I148M variant in PNPLA3. A genetic risk score based on "tier 1" variants, as well as a previously developed genetic risk score based on variants in PNPLA3, TM6SF2, and HSD17B13, were both associated with fibrosis and NAFLD activity score, but these results were driven entirely by PNPLA3 rs738409. CONCLUSIONS: Our study provides a framework to prioritize evaluation of genetic polymorphisms for future replication efforts and demonstrates that in a large case-only cohort, histologic severity of MASLD is only robustly associated with the presence of variation in PNPLA3 among known candidate genes. These findings may have implications for patient risk stratification based on the presence of PNPLA3 rs738409.

Humans↗

PubMed1976

A personality needs profile of some outstanding female athletes.

The Edwards Personal Preference Schedule (EPPS) was administered to 24 outstanding U.S. female athletes who were competitors in the 1972 Olympic Games. The resulting EPPS group profile strongly points to the essential normality of these competitors. Within the framework of a well-balanced needs profile, the two highest group needs scores were in the realm of achievement and autonomy. Thus, these prominent athletes demonstrated the kind of personality profile anticipated from a group of women with seemingly high needs for achievement and self-accomplishment. The EPPS, therefore, appears to be a promising personality measure to assess achievement motivation.

Achievement↗

PubMed1986

Assessment of neurological 'soft signs' in adolescents: reliability studies.

The validity and reliability of a scoring system for 'neurological soft signs' in teenagers was assessed. Six scales were adapted and fitted into the framework of a conventional neurological examination. The following emerged: each of the three multi-item scales had high internal consistency; inter-rater agreement on mirror movements of 'live' subjects was satisfactory; ratings of videotapes agreed among examiners for mirror movements and dysdiadochokinesis but not for choreiform movements; data-based cut-off scores defining present vs. absent were congruent with the ratings of outside neurologists; and each examiner was consistent in rating mirror movements and rapid alternating movements from videotapes over several months.

Adolescent↗

PubMed2026

SeqQC-former: A sequence-quality fusion framework for QC-aware review prioritization of candidate somatic SNVs in cancer genomics.

The accurate prioritization of candidate somatic single-nucleotide variants (SNVs) remains a challenge due to the substantial variability in sequencing quality across genomic loci. SeqQC-Former is a sequence-quality fusion framework that integrates the local nucleotide context with read-level quality-control (QC) covariates derived from matched tumor-normal sequencing data. This integration generates QC-aware prioritization scores for the downstream review of candidate variants. Unlike conventional variant callers, SeqQC-Former is designed not to infer biological truth but to support post-calling review and prioritization under heterogeneous sequencing conditions. The framework was trained and evaluated on a SEQC2-derived dataset comprising 89,447 candidate loci, including 1378 positive and 88,069 negative loci. In chromosome-held-out validation, which aims to reduce potential genomic-position leakage, SeqQC-Former demonstrated strong discrimination (AUROC = 0.9479; AUPRC = 0.9448), indicating good generalization to previously unseen chromosomes. Given that the SEQC2-derived labels contain QC-associated information; these results should be interpreted as an evaluation of QC-aware prioritization capability rather than an independent validation of biological variant correctness. Ablation analyses revealed that structured QC covariates provided the dominant predictive signal under the current SEQC2-derived labeling regime. SeqQC-Former achieved a significantly higher AUROC than classical machine-learning baselines, as determined by DeLong's test (p < 0.01). Application to 53,164 glioblastoma variants demonstrated that external predictions were sensitive to QC scaling and threshold selection, underscoring that model outputs should be interpreted as QC-dependent prioritization scores rather than calibrated probabilities or definitive biological classifications. Overall, SeqQC-Former offers a reproducible post-calling QC-aware prioritization framework for large-scale somatic SNV review and underscores the importance of explicitly modeling sequencing-quality information when interpreting structured cancer genomics datasets.

Humans↗

PubMed1992

The contribution of constructional accuracy and organizational strategy to nonverbal recall in schizophrenia and chronic alcoholism.

The Rey-Osterrieth complex figure was used to assess the separate influences of the constructional accuracy and the organizational strategy employed while copying the figure on the later, incidental recall of the figure. We tested a model, which hypothesized that subjects who copied the main framework of the figure holistically would be more likely to achieve good copy accuracy scores and to reproduce the figure more accurately at recall than subjects who used a piecemeal approach during copy. Subjects included 68 detoxified, chronic alcoholics (ALC), 28 patients with schizophrenia (SZ), and 69 normal control subjects (NCS). The results showed that the ALC and the SZ groups, on average, had lower accuracy and strategy scores at copy than did the NCS group, and furthermore, that the combined contributions of copy accuracy and copy strategy accounted for group differences at recall. A path analysis revealed that, for all three groups, copy strategy had a significant direct effect on copy accuracy. Moreover, copy accuracy and copy strategy made independent contributions to recall accuracy within the ALC and NCS groups; by contrast, within the SZ group, copy strategy made an independent contribution to recall performance but copy accuracy did not. These results suggest that (1) organizational strategy can influence constructional accuracy at both copy and recall; (2) copy accuracy and strategy have the potential to influence recall independently; and (3) the recall deficit in ALC could be attributed to abnormalities in both accuracy and strategy at copy, whereas in SZ it could be attributed only to strategy abnormalities. The deficits observed on the complex figure test in the ALC and SZ were primarily nonmnemonic and were related to ability in figure construction and organizational strategy.

Adult↗

PubMed1997

Response bias affects perceptual asymmetry scores and performance measures on a dichotic listening task.

A dichotic listening paradigm discussed by Sidtis and Bryden (Neuropsychologia, 1978, 16, 627-632) allows one to present non-verbal as well as verbal material. This paradigm also permits signal-detection analyses to separate response biases from discrimination abilities. The present study used Sidtis' (Neuropsychologia, 1981, 19, 103-112) Complex Tone Task as an example of the paradigm. Employing signal-detection analyses, we demonstrated that commonly used performance and asymmetry indices are confounded by response bias. Several indices based on signal-detection measures are suggested to replace current widely used measures. As pointed out by Bryden and Sprott (Neuropsychologia, 1981, 19, 571-581), currently the usefulness of a perceptual asymmetry score is mainly determined by mathematical and statistical properties rather than by a theoretical framework. Thus, the choice of a particular index based on signal-detection theory is arbitrary. The present results and those of Katsuki et al. (Journal of Speech and Hearing Research, 1984, 27, 444-448) suggest that the confounding effect of response bias may be present in a variety of experiments investigating lateral processing.

Adolescent↗

PubMed1997

Map integration at human chromosome 10: molecular and cytogenetic analysis of a chromosome-specific somatic cell hybrid panel and genomic clones, based on a well-supported genetic map.

Well-characterized, chromosome-specific somatic cell hybrid panels are powerful tools for the analysis of the human genome. We have characterized a panel of human x hamster somatic cell hybrids retaining fragments of human chromosome 10 by fluorescence in situ hybridization and associated them to genetic markers. Most of the hybrids were generated by the radiation-reduction method, starting from a chromosome 10-specific monochromosomal hybrid, whereas some were collected from hybrids retaining chromosome 10-specific fragments as a result of spontaneous in vitro rearrangements. PCR was used to score the retention of 57 microsatellite markers evenly distributed along a well-supported framework genetic map containing 149 loci uniquely placed at 69 anchor points (odds exceeding 1,000:1), with an average spacing of 2.8 cM. As an additional resource for genomic studies involving human chromosome 10, we report the cytogenetic localization of a series of YAC and PAC clones recognized by at least one genetic marker. Somatic cell hybrids provide a powerful source of partial chromosome paints useful for detailed clinical cytogenetic and primate chromosome evolution investigations. Furthermore, correlation of the above physical, genetic, and cytogenetic data contribute to an emerging consensus map of human chromosome 10.

Animals↗

PubMed2026

LLPS-based classification and a novel prognostic signature reveal NRF1 as a therapeutic target in pancreatic cancer.

BACKGROUND: Aberrant liquid-liquid phase separation (LLPS) can alter biomolecular condensate functions and may influence pancreatic tumorigenesis and progression, but the specific role of LLPS regulators in prognosis and the tumor immune microenvironment (TIME) in pancreatic ductal adenocarcinoma (PDAC) remains unclear. METHODS: We integrated transcriptome data of LLPS regulator-related differentially expressed genes (DEGs; n = 298) in a cohort of 176 PDAC patients from TCGA. Three LLPS regulator subtypes (LS1-LS3) were identified through multi-omics analyses, and a prognostic LLPS subtype-related risk model (LRRPC) was developed and validated. Chromatin immunoprecipitation confirmed NRF1 binding to promoters of key risk genes, and in vitro and in vivo experiments assessed the effects of NRF1 targeting on tumor growth. RESULTS: The three LLPS regulator subtypes exhibited significant differences in prognosis, clinical features, genomic alterations, TIME patterns and predicted immunotherapy response. The LRRPC signature predicted prognosis and immunotherapy efficacy across cohorts and was associated with tumor biomarkers and immune infiltration. Nuclear Respiratory Factor 1 (NRF1) directly regulated hub genes such as FAM83A, RHOV and ITGB6, promoting PDAC cell proliferation, while its inhibition induced apoptosis and reduced tumor growth. CONCLUSIONS: This study proposes an LLPS-based stratification framework for PDAC, and the LRRPC model provides an LLPS subtype-related risk score that may assist personalized prognostic assessment and immunotherapy stratification. NRF1 emerges as a promising therapeutic candidate whose targeting can inhibit tumor progression in PDAC experimental models and warrants further evaluation.

Immunotherapy↗

PubMed1996

Relationships of objective and projective dependency scores to sex role orientation in college student participants.

Research on the dependency-sex role orientation relationship indicates that when objective dependency measures are used, participants show positive correlations between dependency and femininity scores, and negative correlations between dependency and masculinity scores. In this study, a mixed-sex sample of 87 undergraduates (47 women and 40 men) completed widely used objective and projective measures of dependency, and a self-report measure of sex role orientation. Consistent with previous studies in this area, high objective dependency scores were associated with high femininity scores and low masculinity scores in participants of both sexes. There were no relationships between projective dependency scores and sex role orientation scores in participants of either sex. Findings are discussed in the context of theoretical frameworks that distinguish "implicit" dependency needs from "self-attributed" dependency needs. The role that sex role socialization experiences play in determining participants' willingness to acknowledge dependency-related traits and behaviors on self-report tests is also discussed.

Adolescent↗

PubMed1998

Relational message themes in nurses' listening behavior during brief patient-nurse interactions.

Using a relational message framework, this study examined themes communicated by nurses' listening behavior during brief patient-nurse interactions and whether the pattern of thematic scores reflected a positive patient-nurse relationship. A sample of 126 White college women individually viewed a videotape of six nurses listening to a patient-actress for 25 to 32 seconds. Participants reported what each nurses' listening behavior communicated on a 30-item instrument. Principal axis factoring using a seven-factor solution explained 57.7% to 65.0% of the common variance. Six of the factors proposed in the relational message framework were identified in each interaction: Trust/Receptivity, Depth/Similarity/Affection, Difference, Composure, Dominance or Power, and Formality. In four interactions the pattern of thematic scores suggested communication of a positive patient-nurse relationship. Thus it appears that the communication of positive patient-nurse relationships is not necessarily precluded by the time constraints in contemporary nursing practice.

Adolescent↗