A robust benchmark for evaluating and improving mosaic variant calling strategies

The rapid advances in sequencing and analysis technologies have enabled the accurate detection of diverse forms of genomic variants, including germline, somatic, and mosaic mutations. However, unlike for the former two mutations, the best practices for mosaic variant calling still remain chaotic due to the technical and conceptual difficulties faced in evaluation. Here, we present our benchmark of nine feasible strategies for mosaic variant detection based on a systematically designed reference standard that mimics mosaic samples, with 390,153 control positive and 35,208,888 negative single-nucleotide variants and insertion–deletion mutations. We identified the condition-dependent strengths and weaknesses of the current strategies, instead of a single winner, regarding variant allele frequencies, variant sharing, and the usage of control samples. Moreover, feature-level investigation directs the way for immediate to prolonged improvements in mosaic variant calling. Our results will guide researchers in selecting suitable calling algorithms and suggest future strategies for developers.

ANALYSIS OF ELEMENTARY SCHOOL STUDENTS DIFFICULTIES’ IN SOLVING INTEGER WORD PROBLEMS

This type of research is descriptive qualitative with a case study approach. This study aimed to identify forms of students’ conceptual and principle difficulties in solving integer story problems. The research participants were 34 fifth-grade elementary students. The purposive sampling technique was used to select research subjects based on the minimum completeness criteria value. Methods of data collection using tests and interviews. Data analysis techniques include data reduction, data presentation, and drawing conclusions. The results showed that there were two types of difficulties for elementary school students in solving integer story problems, namely, conceptual difficulties and principle difficulties. The form of conceptual difficulties experienced by students is the difficulty in converting story problems into mathematical form. Besides that, students tend not to write down the steps according to solving story problems, and the principal difficulties experienced by students include errors in performing mathematical calculations. This can be minimized by increasing practice questions in the form of story problems.

Towards a conceptual definition of intangible Olympic legacy

PurposeIntangible legacy encapsulates the essence of Olympism and its manifestation, the Olympic Games. Despite significant interest in the capacity of the Olympics to produce notable changes in society, conceptual difficulties in defining and measuring intangible legacy persist. The study develops a conceptual definition of intangible Olympic legacy.Design/methodology/approachThe study follows a four-step concept definition approach. It examines and integrates three strands of literature including intangibles, social interactions and public value, which is combined with insights from a longitudinal empirical investigation of intangible Olympic legacy for National Sport Organisations (NSO).FindingsThe proposed concept of intangible legacy defines it an emerging combination of attributes, interactions, processes and technology, with the goal of creating public value which is the ultimate goal of the Olympic Games. Since intangible legacy is qualitative rather than quantitative, a reconsideration of the current research paradigm is also proposed.Research limitations/implicationsThe study develops a new analytical device for the investigation of intangible legacies for specific publics such as NSO.Practical implicationsThe study carries practical implications for Olympic and events/festival promoters as it allows defining and operationalising the key attributes of the concept.Originality/valueThis is the first study to conceptualise intangible legacy of mega events.

Helping Pregraduate Students Reach Deep Understanding of the Second Law of Thermodynamics

Pregraduate students often have low success expectations toward their thermodynamics courses, which are often considered too abstract and remarkably difficult to understand. For this reason, they may not even try to reach any level of comprehension while settling for reproducing mathematical calculations and memorizing definitions to pass the exams. Traditional lectures on thermodynamics, focusing on mathematical deductions while neglecting the qualitative characterization of the concepts behind the equations, do not help in this respect. Aiming at a change in the teaching practice and focused on the second law of thermodynamics, the main goals of this work are to characterize the way of reasoning of the expert; to present a review on the most important learning difficulties encountered by students and categorize them into three groups: the disregard of qualitative understanding, the inherent conceptual difficulties, and those related to the students’ previous knowledge; and to propose some suitable teaching practices to assist instructors in this difficult but rewarding task.

Competition as sense making

At the root of the conceptual difficulties in determining the competitive structures that underpin markets is the fact that firms and their product offerings can be described along a large number of attributes, and so be viewed as more or less similar depending on the attributes used for comparison. Our chapter exposes the multi-level cognitive embeddedness of competition among restaurants in New York City. Using field interviews and archival data on restaurant evaluations, categories, pricing, and menus, we employ qualitative counterfactual analysis to address fundamental issues concerning competitive boundaries that cut across categorical, organizational, and transactional perspectives of competition. We argue that conceptualizations of competition are only loosely coupled across different perspectives, and we contend that competitive judgments are better construed as a collective sensemaking process where different actors interact and competitive boundaries are constantly defined, contested, and redefined. Thus, we propose a heuristic framework for understanding the cognitive embeddedness of competition as part of a broader sensemaking perspective of competition.

Functional Groups Detection: Do Chemistry Teachers Demonstrate Conceptual Difficulties in Teaching?

The chemistry chief examiner of the West African Examination Council has complaint a lot about the weak performance of students on organic chemistry, including functional group detection. The study, therefore, investigated whether senior high school teachers who teach chemical concepts to students also demonstrated conceptual difficulties on functional group detection under organic qualitative analysis. The study adopted convergent mixed methods procedures to collect both quantitative and qualitative data from 47 chemistry teachers. The 47 teachers were sampled through multistage sampling procedures to respond to the Organic Qualitative Analysis Diagnostic Test for Teachers. The quantitative data was analyzed using means, standard deviations, and percentages to reflect no scientific understanding, partial scientific understanding, and scientific understanding of functional group detection. The qualitative data was open-coded and constantly compared to established teachers’ alternative conceptions and factual difficulties on functional group detection.

Studying the development of integrated financial sectors

This chapter presents the theoretical framework of social learning. Given the changes financial sectors underwent in the decades before the crisis, it begins with a brief overview of how the research on financial sectors has developed in comparative and international political economy. It summarizes key insights, synthesizes the progress that has been made, and highlights remaining conceptual difficulties. The subsequent sections spell out the ontological foundations and the theoretical building blocks that inform the book’s analytic prism of social learning, which is the answer provided to the difficulties identified in the first part. The chapter closes with the causal chain that underlies the mechanism of social learning, which structures the subsequent empirical chapters.

Constituindo-se Professora que Ensinará Matemática nos Anos Iniciais: o que Revelam as Narrativas Quanto a Alfabetização Matemática?

ResumoEste artigo é recorte de um doutoramento, resultado de uma pesquisa narrativa, e objetiva investigar o que revelam as narrativas de estudantes do curso de Pedagogia da Universidade Federal de São Carlos (UFSCar), construídas durante dois encontros da disciplina “Matemática: conteúdos e seu ensino”, sobre a ludicidade, o ensinar matemática no ciclo de alfabetização e o constituir-se professora que ensinará matemática nos anos iniciais. Nesse percurso, escolhemos as narrativas enquanto método e fenômeno a ser estudado. Constituímos diários de formação, produzidos pelas cinco participantes e por mim, e as entrevistas narrativas realizadas, como textos de campo. O processo de análise realizado se deu por meio da análise narrativa. As narrativas produzidas revelaram algumas dificuldades conceituais sobre a matemática e o processo de alfabetização matemática. Ao longo dos encontros, percebemos que as diferentes estratégias formativas propostas contribuíram para repensar essas crenças e ressignificar essas marcas negativas e as dificuldades que apresentaram.Palavras-chave: Alfabetização Matemática. Formação Inicial de Professores. Narrativas. Diários de Formação. AbstractThis article is an excerpt from a PhD, the result of a narrative research, and aims to investigate what the narratives of students in the Pedagogy course at the Federal University of São Carlos (UFSCar) reveal, built during two meetings of the discipline “Mathematics: Contents and their teaching ”, On playfulness, teaching mathematics in the literacy cycle and becoming a teacher who will teach mathematics in the early years. Along this path, we chose narratives as a method and phenomenon to be studied. We constituted the training diaries, produced by the 05 participants and mine, and the narrative interviews carried out, as field texts. The analysis process carried out took place through narrative analysis. The narratives produced revealed some conceptual difficulties about mathematics and the mathematical literacy process. Throughout the meetings, we realized that the different training strategies proposed contributed to rethink these beliefs and reframe these negative marks and the difficulties they presented. Keywords: Mathematical Literacy. Initial Teacher Training. Narratives. Training Diaries