Sexual Selection as a Tool to Improve Student Reasoning of Evolution

There is an emphasis on survival-based selection in biology education that can allow students to neglect other important evolutionary components, such as sexual selection, reproduction, and inheritance. Student understanding of the role of reproduction in evolution is as important as student understanding of the role of survival. Limiting instruction to survival- based scenarios (e.g., effect of food on Galapagos finch beak shape) may not provide students with enough context to guide them to complete evolutionary reasoning. Different selection forces can work in concert or oppose one another, and sexual selection can lead to the selection of trait variants that are maladaptive for survival. In semistructured interviews with undergraduate biology students (n = 12), we explored how leading students through a sequence of examples affected student reasoning of evolution. When presented with an example where sexual selection and survivability favored the same variant of a trait, students emphasized survival in their reasoning. When presented with a scenario where sexual selection selected for trait variants that were maladaptive for survival, more students described how two different selection forces contributed to evolutionary outcomes and described reproductive potential as a part of fitness. Moreover, these students considered how the maladaptive traits were inherited in the population. Scenarios where sexual selection and survival-based selection were opposed improved student ability to reason about how factors other than survival impact evolutionary change. When instructors introduce students to scenarios where survival-based selection and sexual selection are opposed, they allow students to change their reasoning toward inclusion of reproduction in their evolutionary reasoning

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Access to Online Formative Assessments in Lower-Division Undergraduate Biology Courses: Investigating Barriers to Student Engagement

Instructors use a variety of online formative assessment (FA) activities to support learning outside class. Previous studies have revealed barriers for students in online courses, but little is known about the barriers students experience when completing online FA assignments. Understanding these barriers to access is critical to fostering more inclusive learning for all students. Using a framework from previous work in online learning, we examined student perceptions of online FA access with respect to five barrier categories: technical resources, instructor organization, social interactions, personal engagement, and learning environment. We developed and administered a survey to more than 1200 undergraduate biology students at 2-year and 4-year institutions. Students responded to statements using Likert scales and open-ended prompts. Statistical models indicated differences in access across the barrier categories and revealed that demographic characteristics were associated with certain barrier categories. Furthermore, technical resources, instructor organization, and personal engagement barriers were associated with lower course performance. In open-ended responses, students most frequently suggested that changes to scheduling logistics, course delivery, and FA format would improve their online FA experience. We discuss how these findings and student suggestions can inform instruction, particularly how instructors can alter their FA characteristics to better suit their student populations