Search PubMed⌕ Search

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.

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

At least 289 records · Page 16Linked to original sources

Olfactory short-term memory and related amygdala recordings in patients with temporal lobe epilepsy.

Olfactory short-term recognition memory was assessed with a delayed odour-matching task in 38 patients with unilateral temporal lobe epilepsy (TLE) and stereotactic electroencephalography (SEEG) recordings taken prior to surgical treatment. The amygdala SEEG activity associated with odorant stimulation was examined in 18 patients. Because the invasive SEEG procedure is only performed in a clinical framework, electrophysiological data obtained from these patients could not be analysed in comparison with data obtained from control subjects. Behavioural results (hits, false alarms, discrimination, bias scores) showed global impairment of odour recognition memory in patients when compared with controls. We also found lower discrimination and higher false alarm scores in left than in right TLE patients, and higher false alarm scores in male than in female patients. The hemisphere effect is discussed in terms of psychosocial trait differences between patients. Electrophysiological recordings collected from the amygdala demonstrated that odorant stimulation was associated with chemosensory evoked potentials (CSEPs). Analysis revealed that CSEPs obtained for target odorants had lower peak amplitudes and latencies than those obtained in response to sample odorants. The reduced peak amplitudes suggest a mechanism of repetition suppression--a process assumed to reflect neural activity related to high-level cognitive processes such as attention, memory and decision making. Latency modulations appear rather to be linked to early stages of information processing and may therefore reflect a facilitation process due to selective attention.

Adult↗

Genetic risk stratification of common diseases in breast cancer survivors: a population-based cohort study.

IMPORTANCE: Patients diagnosed with breast cancer (BCa) are at increased risk of multiple common diseases; however, the spectrum of these diseases and the contribution of inherited genetic susceptibility remain incompletely characterized. METHODS: We evaluated 15 common diseases and tested their associations with BCa exposure and disease-specific polygenic risk scores (PRS) in the UK Biobank (UKB; N&#x2009;=&#x2009;254,736). Analyses were performed using cause-specific Cox proportional hazards models within a full-cohort framework, with time-updated BCa status, delayed entry at study recruitment, and age as the underlying time scale. RESULTS: After recruitment, incident BCa was diagnosed in 11,386 women (4.47%), including 2,742 (24.08%) with metastatic BCa. Patients with BCa had an increased risk of nine diseases spanning cardiovascular, metabolic, and neuropsychiatric domains (P<0.003, Bonferroni-corrected). Elevated risks were generally observed among patients with both early staged and advanced BCa. Inherited susceptibility further stratified disease risk, with the highest risks observed among patients with BCa with elevated disease-specific PRS. For example, compared with women without BCa, the hazard ratio (HR; 95% CI) for osteoporosis was 2.33 (2.15-2.52) among women with any BCa, 2.38 (2.18-2.59) among those with non-metastatic BCa, and 2.12 (1.78-2.54) among those with metastatic BCa; the HR was 4.48 (3.99-5.02) among patients with BCa in the highest quartile of osteoporosis-specific PRS (all P<0.001). In contrast, BCa was not significantly associated with risk of coronary artery disease. CONCLUSION: BCa and inherited genetic susceptibility jointly contribute to increased risk of multiple common diseases, supporting the integration of genetic risk stratification into survivorship care.

Complications↗

Communicative behavior in schizophrenia. The relation of adaptive styles to kinetic and linguistic aspects of interview behavior.

Recent studies of formal kinetic and linguistic aspects of communication suggest that these may be important signposts of internal processes responsible for the regulation and organization of verbal thought. If so, the formal analysis of communication patterns of patients known to have difficulty in cognitive organization (chronic schizophrenics) should reveal kinetic and linguistic characteristics consistent with their level of adaptive cognitive functioning. In the present study, 16 chronic nonparanoid schizophrenic patients were video recorded during a clinical interview, and their kinetic and linguistic behavior was analyzed according to systems developed in our laboratory. Eight of these patients were chronic, isolated patients, classified by means of a scale for measuring proneness to future hospitalization, as extremely "prone" to rehospitalization, and eight were chronic, overtly oppositional patients, classified as "nonprone" to hospitalization. Prone patients are known to exhibit a relatively impoverished form of cognitive functioning, while nonprone patients exhibit more highly differentiated cognitive functioning. The major findings of this study revealed that the isolated prone patients could be distinguished from the nonprone patients, in their communicative behavior, by an increased utilization of the most repetitive and unpatterned stimulation of body parts, as well as the most simple form of linguistic narration of experience. The oppositional nonprone patients more often utilized circumscribed, patterned, and brief kinetic stimulation of body parts, as well as a form of language construction characterized by a complex conditional (i.e., causal, deductive, or purposive) framework for the expression of thought. In addition, social and affective components of the scale measuring hospital proneness were related to our formal kinetic and linguistic scoring categories. An explanation of these findings was offered based upon the well documented relationship observed in the literature between isolation and hyperarousal in chronic schizophrenia. That is, an attempt was made to integrate these findings with the notion that the schizophrenic disorder reflects an integrative deficit which is regulated by increasing the magnitude of proprioceptive feedback (and hence, arousal) through stereotyped repetitive motor activity.

Adaptation, Psychological↗

Psychological impact of fire disaster on children and their parents.

Six weeks following a major wildfire, children's psychosocial functioning was examined. Employing a multimethod assessment approach, the short-term mental health consequences of the fire were evaluated. Individual adjustment was compared between families who reported high levels of loss as a result of the fire (high-loss group) and families who reported relatively low levels of loss resulting from the fire (low-loss group). Standardized assessment procedures were employed for children and adolescents as well as their parents. In general, high-loss participants reported slightly higher levels of post-traumatic stress disorder (PTSD) symptoms and significantly higher scores on the Impact of Events Scale. PTSD symptoms reported by parents were generally significantly correlated with (but not concordant with) PTSD symptoms reported by their children. The high-loss group scored significantly higher on the Resource Loss Index than did the low-loss group. Preexisting and comorbid disorders and previous stressors are described. A methodological framework for future studies in this area is discussed.

California↗

ProgModule: A novel computational framework to identify mutation driver modules for predicting cancer prognosis and immunotherapy response.

BACKGROUND: Cancer originates from dysregulated cell proliferation driven by driver gene mutations. Despite numerous algorithms developed to identify genomic mutational signatures, they often suffer from high computational complexity and limited clinical applicability. METHODS: Here, we presented ProgModule, an advanced computational framework designed to identify mutation driver modules for cancer prognosis and immunotherapy response prediction. In ProgModule, we introduced the Prognosis-Related Mutually Exclusive Mutation (PRMEM) score, which optimizes the balance between exclusive mutation coverage and the incorporation of mutation combination mechanisms critical for cancer prognosis. RESULTS: Applying to BLCA and HNSC cohorts, ProgModule successfully identified driver modules that stratify patients into distinct prognostic subgroups, and the combination of these modules could serve as an effective prognostic biomarker. Extending our method to diverse cancers, ProgModule presented robust prognostic performance and stability across model parameters, including stopping criteria and network topology. Moreover, our analysis suggested that driver modules can predict immunotherapeutic benefit more effectively than existing signatures. Further analyses based on published CRISPR data indicated that genes within these modules may serve as potential therapeutic targets. CONCLUSIONS: Altogether, ProgModule emerges as a powerful tool for identifying mutation driver modules as prognostic and immunotherapy response biomarkers, and genes within these modules may be used as potential therapeutic targets for cancer, offering new insights into precision oncology.

Humans↗

Effects of different training modalities on lower-limb explosive power, acceleration, 20-m sprint performance, and change-of-direction ability in youth soccer players: a systematic review and network meta-analysis.

BACKGROUND: Youth soccer players repeatedly perform explosive actions, short accelerations, linear sprints, decelerations, and multidirectional movements. However, the comparative effects of different structured physical-conditioning programmes remain uncertain. METHODS: Seven databases were searched from inception to 3 July 2026 using a final expanded search strategy encompassing plyometric, strength or resistance, sprint, acceleration, speed, change-of-direction, neuromuscular, multicomponent, and combined training. Randomised controlled trials involving healthy youth soccer players were eligible. Intervention arms were classified using operational, content-based node definitions. Construct-restricted primary networks and expanded sensitivity networks were analysed using frequentist random-effects network meta-analysis. Hedges' adjusted g was preferentially calculated from post-intervention or final-follow-up means, standard deviations, and sample sizes. Estimates were presented so that positive values indicated better performance. P-scores were treated as descriptive ranking summaries. Risk of bias was assessed using an adapted study-level application of the five-domain RoB 2 framework, and confidence in the evidence was assessed using CINeMA. A post hoc strict-age sensitivity analysis excluded two age-boundary studies. RESULTS: Eighty-nine studies were included in the expanded quantitative analysis, of which 74 contributed to at least one construct-restricted primary network. The primary lower-limb explosive-power, acceleration, 20-m sprint, and planned change-of-direction networks included 55, 20, 25, and 38 studies, respectively. Compared with usual soccer training, plyometric training combined with sprint and/or change-of-direction training showed favourable estimates for lower-limb explosive power (SMD 0.79, 95% CI 0.55 to 1.03), acceleration (1.19, 0.90 to 1.49), 20-m sprint performance (0.80, 0.33 to 1.28), and planned change-of-direction ability (1.46, 1.13 to 1.80). Corresponding I&#xb2; values were 34.6%, 21.8%, 65.0%, and 41.0%. Between-design inconsistency was detected in the 20-m sprint (P&#x2009;=&#x2009;0.0036) and change-of-direction (P&#x2009;=&#x2009;0.0007) networks. CINeMA confidence for these four comparisons was low, low, very low, and low, respectively. Expanded sensitivity networks showed substantially greater heterogeneity. The highest-ranked intervention differed across outcome domains but remained consistent within each outcome across the three analysis sets. Excluding the two age-boundary studies did not materially alter the principal estimates. CONCLUSIONS: Plyometric training combined with sprint and/or planned change-of-direction training produced favourable comparative estimates across the four performance outcomes. However, evidence for several nodes and active-versus-active comparisons was sparse, heterogeneity in programmes and outcomes was present, inconsistency was detected in some networks, and confidence in the evidence was low or very low. These limitations do not support a conclusion that any training category is universally superior. The findings should be interpreted as provisional category-level signals rather than definitive training prescriptions. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD420261347297, registered on 21 March 2026, https://www.crd.york.ac.uk/PROSPERO/view/CRD420261347297 .

Change-of-direction ability↗

Effects of induced mood states on objective and projective dependency scores.

In two experiments involving a total of 144 participants (72 women and 72 men), we examined the effects of induced mood states on college students' scores on widely used objective and projective measures of dependency. In both experiments, induced mood states significantly influenced participants' scores on the projective dependency test but did not affect their scores on the objective dependency test. Findings are discussed in the context of previous studies comparing objective and projective dependency measures and with respect to theoretical frameworks that distinguish implicit from self-attributed dependency needs.

Adult↗

Analysis of early complications after radical cystectomy: results of a collaborative care pathway.

PURPOSE: We examined our recent series of patients who underwent radical cystectomy to determine and analyze the early perioperative morbidity of the procedure in a contemporary series treated with the guidance of a clinical pathway. MATERIALS AND METHODS: We reviewed the records of 304 consecutive patients who underwent radical cystectomy from December 1995 to July 2000. We specifically evaluated complications that developed within 30 days of the procedure. Potential variables predictive of early morbidity were analyzed, including patient age, gender, race, American Society of Anesthesiologists score, type of urinary diversion, smoking history, estimated blood loss, transfusion requirement, pathological stage and operative time. RESULTS: The overall minor complication rate was 30.9% (94 of 304 patients). Postoperative ileus was the most common minor complication, affecting 54 patients (18%). Increased blood loss and major complications predicted a significantly higher likelihood of ileus on multivariate analysis (p = 0.02 and 0.001, respectively). Major complications in 15 patients (4.9%) correlated with higher American Society of Anesthesiologists score, surgical intensive care unit admission and transfusion requirement (p = 0.01, <0.001 and 0.001, respectively). The early mortality rate was 0.3% (1 patient). CONCLUSIONS: Within the framework of a clinical pathway, radical cystectomy can be performed safely with an acceptable rate of early minor and major complications. Delay in the return of bowel function is the most common minor complication. Increased estimated blood loss, transfusion requirement and a major complication predicted a higher likelihood of postoperative ileus. The acceptable rate of early morbidity in this series in a 5-year period validates its use in patients undergoing radical cystectomy.

Adult↗

Designing self-report instruments for family assessment.

As family medicine research expands, more and better self-report measures for quantifying family systems variables will be required. These measures should be developed from an accepted paradigm for instrument design that includes the following. They should be: 1) grounded in a contemporary conceptual framework; 2) constructed following a rational theoretical design that includes the sequential stages of construct identification, construct definition, item generation, item editing, item formatting, and item scoring; 3) analyzed empirically at the item level for item distribution characteristics, item-scale correlation, and item-response style correlations; 4) analyzed at the scale level for scale distribution characteristics, scale-scale correlations, and scale-response style correlation; 5) revised based on editing and empirical analysis; and 6) psychometrically evaluated for reliability (eg, internal consistency, test-retest) and validity (construct related, criterion related, and content related). Normative data from various reference populations must also be obtained to provide a basis for interpreting scores. Finally, test manuals must be written to summarize test development data and provide information on administration procedures, scoring, and interpretation.

Behavior↗

Multi-Omics Integration Identifies a Five-Gene Metabolic Signature With Experimental Validation in Clear Cell Renal Cell Carcinoma.

BACKGROUND: Clear cell renal cell carcinoma (ccRCC) is hallmarked by profound metabolic reprogramming; however, its intricate crosstalk with the tumor immune microenvironment (TIME) and its clinical ramifications remain inadequately elucidated. This study aims to systematically decipher the metabolic-immune interplay in ccRCC through multi-omics integration, with the goal of identifying robust prognostic biomarkers and actionable therapeutic vulnerabilities. AIMS: This study aims to systematically decipher the metabolic-immune interplay in clear cell renal cell carcinoma (ccRCC) through multi&#x2011;omics integration, and to identify robust prognostic biomarkers and actionable therapeutic vulnerabilities that can inform precision risk stratification and individualized treatment strategies. METHODS: We integrated bulk transcriptomic, genomic, and clinical data from multiple ccRCC cohorts. Differential expression and functional enrichment analyses were performed to characterize metabolic pathway alterations. Mendelian randomization (MR) was employed to infer causal relationships between metabolic disorders and ccRCC risk. A machine learning-based prognostic framework, incorporating SHAP (SHapley Additive exPlanations) for feature interpretability, was constructed and rigorously validated. TIME heterogeneity was dissected using deconvolution algorithms, while drug sensitivity, tumor mutation burden (TMB), and TIDE scores were utilized to assess therapeutic responses and immune evasion. Candidate gene function was evaluated through in&#xa0;vitro gain- and loss-of-function assays, with expression validated via TCGA, HPA, western blot, and qRT-PCR. RESULTS: Enrichment analysis identified coordinated dysregulation in lipid metabolism, energy homeostasis, and hypoxia response pathways. MR analysis confirmed lipid metabolism disorders as a causal risk factor for ccRCC. Our machine-learning model, centered on five core SHAP-identified features (SUCLA2, ACAT1, PC, SUCLG1, and HMGCS2), demonstrated superior predictive accuracy over conventional clinical staging. Immune profiling unveiled dichotomous TIME states: the low-risk group retained active immune surveillance, whereas the high-risk group was enriched with immunosuppressive subsets. Drug sensitivity screening pinpointed LY2109761 and carmustine as high-risk-specific candidate agents. Furthermore, TMB and TIDE analyses stratified high-risk patients displaying genomic instability and immune evasion phenotypes. Functionally, SUCLA2 knockdown significantly enhanced ccRCC cell proliferation and invasion, while its overexpression suppressed these malignant phenotypes, corroborating its tumor-suppressive role. Expression patterns of the hub genes were consistently validated across multi-level datasets and experimental assays. CONCLUSION: This study establishes a precision oncology framework for ccRCC by functionally linking metabolic biomarkers, immunophenotypes, and stratified therapeutic strategies. Importantly, we identify SUCLA2 as a potential functional tumor suppressor and a promising target for further mechanistic and translational investigation.

Humans↗

Evaluating functional outcome in patients with lower extremity sarcoma.

The Short Form 36, The Toronto Extremity Salvage Score, and the 1987 and 1993 Musculoskeletal Tumor Society Rating Scales were compared as measures of functional status for patients with lower extremity sarcoma. The study included 97 patients with lower extremity sarcoma and evaluated each measure on the following measurement properties: conceptual framework; statement of the purpose; feasibility; breadth of content; depth of measurement; cross sectional and longitudinal reliability; and validity and responsiveness. The Short Form 36 represents patients' perceptions of their physical and mental health and is practical to use. However, the validity of the measure is questionable for the patients with sarcoma because the subscale structure could not be reproduced in the current data. The Toronto Extremity Salvage Score meets all standards of measurement with the exception of breadth of content as it measures only physical function. The 1987 and 1993 Musculoskeletal Tumor Society scales do not meet the standards of measurement. In choosing an outcome measure for the extremity sarcoma population, the Toronto Extremity Salvage Score has superior measurement properties when compared with the Short Form 36 or the 1987 and 1993 Musculoskeletal Tumor Society scales. The Toronto Extremity Salvage Score is a reliable and efficient measure for monitoring patients and for use in clinical trials.

Adolescent↗

Precision of histological grading of malignancy.

The precision of a grading system based upon average score of 8 items for histological evaluation of malignancy of epidermoid carcinomas of the larynx was studied by letting 6 pathologists examine biopsies from 22 new cases. Exploratory statistical tools as well as a statistical framework (variance component models) for separating and evaluating the noise components are suggested. The order of magnitude of the resulting overall measurement uncertainty allowed discrimination between patients, though if a patient is graded by only one pathologist, only results as the extremes of the scale of malignancy should be trusted as possible therapeutical guidance. Based upon an analysis of the basic structure of the grading system the single noise components making up the measurement uncertainty were determined. Of greatest importance was noice created by disagreement between the pathologists in their ranking of the patients on the scale of malignancy. Furthermore the pathologist used the individual items differently, and certain items seemed to conform little to the scoring system. An attempt to minimize these two last components was performed; however neither calibration of the pathologists nor omission of the deviating items improved the precision significantly.

Carcinoma, Squamous Cell↗

Cognitive inhibition in individuals prone to homophobia.

Individuals scoring either High, Medium, or Low on the Homosexism Short-Form scale (Hansen, 1982) made speeded decisions to neutral (N), mildly provocative (MP), or very provocative (VP) statements regarding issues relating to homophobia. These three groups did not differ on age, education, reading rate, or vocabulary ability. It was predicted that individuals High in homophobia would produce faster reaction times to the VP sentences than those individuals scoring Medium or Low in homophobia. Results indicated the opposite pattern. Individuals scoring High in homophobia actually had slower reaction times to VP sentences than did either the Medium or Low homophobia individuals. Results are discussed within an inhibitory framework related to the High homophobia individuals' overall homophobia schema.

Analysis of Variance↗

Human performance on visually presented Traveling Salesman problems.

Little research has been carried out on human performance in optimization problems, such as the Traveling Salesman problem (TSP). Studies by Polivanova (1974, Voprosy Psikhologii, 4, 41-51) and by MacGregor and Ormerod (1996, Perception & Psychophysics, 58, 527-539) suggest that: (1) the complexity of solutions to visually presented TSPs depends on the number of points on the convex hull; and (2) the perception of optimal structure is an innate tendency of the visual system, not subject to individual differences. Results are reported from two experiments. In the first, measures of the total length and completion speed of pathways, and a measure of path uncertainty were compared with optimal solutions produced by an elastic net algorithm and by several heuristic methods. Performance was also compared under instructions to draw the shortest or the most attractive pathway. In the second, various measures of performance were compared with scores on Raven's advanced progressive matrices (APM). The number of points on the convex hull did not determine the relative optimality of solutions, although both this factor and the total number of points influenced solution speed and path uncertainty. Subjects' solutions showed appreciable individual differences, which had a strong correlation with APM scores. The relation between perceptual organization and the process of solving visually presented TSPs is briefly discussed, as is the potential of optimization for providing a conceptual framework for the study of intelligence.

Attention↗

Pedigree tests of transmission disequilibrium.

High-resolution mapping is essential for the positional cloning of complex disease genes. In outbred populations, linkage disequilibrium is expected to extend for short distances and could provide a powerful fine-mapping tool. Current family-based association tests use nuclear family members to define allelic transmission and controls, but ignore other types of relatives. Here we construct a general approach for scoring allelic transmission that accommodates families of any size and uses all available genotypic information. Family data allows for the construction of an expected genotype for every non-founder, and orthogonal deviates from this expectation are a measure of allelic transmission. These allelic transmission scores can be used to extend previously described tests of linkage disequilibrium for dichotomous or quantitative traits. Some of these tests are illustrated, together with a permutation framework for estimating exact significance levels. Simulation studies are used to investigate power and error rates of the approach. As a practical application, the method is used to investigate the relationship between circulating angiotensin-1 converting enzyme (ACE) levels and polymorphisms in the ACE gene using previously published data.

Alleles↗

Assessment of quality of survival in patients with surgically treated meningioma.

A prospective study carried out between 1982 and 1991 encompassed 179 patients who had been operated upon for meningiomas (Neurosurgical University Clinic Heidelberg and Mannheim). History, neurological status, neuroradiological findings, surgical procedure and histology were documented. Within the framework of regular postoperative reexaminations, indices were recorded regarding life quality as standardized by Karnofsky and Spitzer. Following HRDP (Hamburg Rating Scale for Emotional Disturbances), a depression score was evaluated with 32 patients pre and postoperatively. Psychosocial disturbances, which can develop a permanent character, were observed, particularly within the first 12 months after the operation. Depressive moods were noticed quite frequently. The age of the patients proved to be a decisive prognostic factor.

Adult↗

No substantial psychological impact of the diagnosis of Type 2 diabetes following targeted population screening: The Hoorn Screening Study.

AIMS: To examine the impact of the diagnosis of Type 2 diabetes on psychological well-being and perceived health status in subjects who participated in a targeted population-screening programme. METHODS: This study was conducted within the framework of a screening project in the general (aged 50-75 years) Dutch population. The final study population consisted of 259 subjects with a high-risk score on the Symptom Risk Questionnaire; 116 of whom were subsequently detected with Type 2 diabetes and 143 who were non-diabetic. The impact was assessed approximately 2 weeks (shortly) and 6 and 12 months after the diagnosis, using the 12-item Well-Being Questionnaire (W-BQ12) and the Medical Outcomes Study Short Form 36 (SF-36), respectively. Analyses of co-variance (ancova) were used. RESULTS: Approximately 2 weeks after the diagnosis, no significant mean differences were found on either the W-BQ12 or the SF-36, between the screening-detected Type 2 diabetes subjects and the non-diabetic subjects. Six months after the diagnosis, we found lower scores in the screening-detected Type 2 diabetes subjects compared with the non-diabetic subjects on the SF-36 dimensions Role Physical (mean difference (95% CI); -8.2 (-16.2; -0.1); P = 0.046) and Role Emotional (mean difference (95% CI); -7.9 (-15.3; -0.5); P = 0.038). One year after the test results, no significant mean differences were found between both groups on either instrument (W-BQ12; SF-36). CONCLUSIONS: The diagnosis of Type 2 diabetes has no substantial adverse or positive effect on psychological well-being and perceived health status, shortly, and 6 and 12 months after the diagnosis.

Aged↗

Parametric and nonparametric linkage analysis: a unified multipoint approach.

In complex disease studies, it is crucial to perform multipoint linkage analysis with many markers and to use robust nonparametric methods that take account of all pedigree information. Currently available methods fall short in both regards. In this paper, we describe how to extract complete multipoint inheritance information from general pedigrees of moderate size. This information is captured in the multipoint inheritance distribution, which provides a framework for a unified approach to both parametric and nonparametric methods of linkage analysis. Specifically, the approach includes the following: (1) Rapid exact computation of multipoint LOD scores involving dozens of highly polymorphic markers, even in the presence of loops and missing data. (2) Non-parametric linkage (NPL) analysis, a powerful new approach to pedigree analysis. We show that NPL is robust to uncertainty about mode of inheritance, is much more powerful than commonly used nonparametric methods, and loses little power relative to parametric linkage analysis. NPL thus appears to be the method of choice for pedigree studies of complex traits. (3) Information-content mapping, which measures the fraction of the total inheritance information extracted by the available marker data and points out the regions in which typing additional markers is most useful. (4) Maximum-likelihood reconstruction of many-marker haplotypes, even in pedigrees with missing data. We have implemented NPL analysis, LOD-score computation, information-content mapping, and haplotype reconstruction in a new computer package, GENEHUNTER. The package allows efficient multipoint analysis of pedigree data to be performed rapidly in a single user-friendly environment.

Algorithms↗