Genetics. Was the Human Genome Project worth the effort?
Ontology highlight
ABSTRACT:
SUBMITTER: Daiger SP
PROVIDER: S-EPMC2582021 | biostudies-literature | 2005 Apr
REPOSITORIES: biostudies-literature
Publications
Genetics. Was the Human Genome Project worth the effort?
Science (New York, N.Y.) 20050315 5720
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Project description:Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterization of African genetic diversity is needed. The African Genome Variation Project provides a resource with which to design, implement and interpret genomic studies in sub-Saharan Africa and worldwide. The African Genome Variation Project represents dense genotypes from 1,481 individuals and whole-genome sequences from 320 individuals across sub-Saharan Africa. Using this resource, we find novel evidence of complex, regionally distinct hunter-gatherer and Eurasian admixture across sub-Saharan Africa. We identify new loci under selection, including loci related to malaria susceptibility and hypertension. We show that modern imputation panels (sets of reference genotypes from which unobserved or missing genotypes in study sets can be inferred) can identify association signals at highly differentiated loci across populations in sub-Saharan Africa. Using whole-genome sequencing, we demonstrate further improvements in imputation accuracy, strengthening the case for large-scale sequencing efforts of diverse African haplotypes. Finally, we present an efficient genotype array design capturing common genetic variation in Africa.
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Project description:BackgroundThe sandwich principle is an educational concept that regularly alternates between collective and individual learning phases within one learning unit. Applying sandwich principle to lectures has proven to be more effective for learning outcomes than classical lectures. Supposedly, this teaching format also leads to a beneficial knowledge transfer when applied to other teaching formats. Therefore, the aim of this study was to investigate the effect of the sandwich principle on instructional videos and how its use was evaluated by students.MethodsParticipants (n = 51) were randomly allocated into two groups. Both groups were given a test to assess the baseline level of knowledge. Afterwards, the control group watched the normal instructional video on cleft lips and palates, while the sandwich group watched the same video modified according to the sandwich principle. The participants then had to answer 30 single-choice questions to assess their knowledge gain and evaluate the instructional video. Long-term retention of the knowledge was tested again 6 months later using the same test questions. The unpaired t-test and ANOVA were used to compare the results.ResultsComparison of the pre-test and post-test results of both groups showed significantly increased test scores (p < 0.0001). Regarding long-term retention, the mean test scores were still significantly higher in both groups than before watching the video (p < 0.0001). For all test results, there was no significant difference between the groups (p > 0.05). The evaluation showed that the students highly appreciated the modified video and found the interruptions for repetition of previously learned knowledge useful.ConclusionThe hypothesis that the modification of instructional videos according to the sandwich principle would lead to an improved learning outcome could not be proved subjectively or objectively. Nevertheless, the teaching format was highly appreciated by the students and may have increased their motivation to learn with instructional videos.
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Project description:ObjectivesAmotivation is a common symptom in various mental disorders, including psychotic or depressive disorders. Effort-based decision-making (EBDM)-tasks quantifying amotivation at a behavioral level have been on the rise. Task performance has been shown to differentiate patient groups from healthy controls. However, findings on indicators of construct validity, such as the correlations between different tasks and between tasks and self-reported/observer-rated amotivation in clinical and healthy samples have been inconclusive.MethodsIn a representative community sample (N = 90), we tested the construct validity of the Deck Choice Task, the Expenditure for Rewards Task and the Balloon Task. We calculated correlations between the EBDM-tasks and between the EBDM-tasks and self-reported amotivation, apathy, anticipatory pleasure, and BIS/BAS.ResultsCorrelations between tasks were low to moderate (0.198 ≤ r ≤ 0.358), with the Balloon Task showing the largest correlations with the other tasks, but no significant correlations between any EBDM-task and the self-report measures.ConclusionAlthough different EBDM-tasks are conceptualized to measure the same construct, a large part of what each task measures could not be accounted for by the other tasks. Moreover, the tasks did not appear to substantially capture what was measured in established self-report instruments for amotivation in our sample, which could be interpreted as questioning the construct validity of EBDM-tasks.
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