Have you ever watched a crime show on TV and wondered just how DNA forensic analysis really works? Does everyone really have a unique DNA fingerprint? Have you been tempted to spend $100 to get your own DNA tested? If so, did you know that your test results could help you to trace your ethnic background, find missing relatives and even help the police find a murderer? Have you ever wondered why you are a similar height to your siblings - is it because of your genes, or because of the environment you grew up in? Why do traits vary even when their underlying DNA sequence is exactly the same? What role does genetics play in your risk of developing diseases such as diabetes?

This course will introduce you to the principles of population, evolutionary and quantitative genetics. We do this by asking: what can we learn from DNA? In answering this question, we focus on the practical applications of the theory illustrated by human forensic DNA analysis, conservation genetics and evolutionary genetics. In the practical component of the course, students will gain hands-on experience in human forensic DNA profiling in the laboratory, as well as statistical analysis skills across a range of genetic topics. Other topics covered include Next Generation Sequencing and its emerging and far reaching applications in human forensics and conservation genetics; and genetic adaptation including epigenetics and plasticity.

Note: Graduate students attend joint classes with undergraduates but are assessed separately.

Learning Outcomes

Upon successful completion, students will have the knowledge and skills to:

1. Explain to an audience of subject matter experts the key concepts in population, evolutionary and quantitative genetics including: the basis and estimation of genetic variation; Hardy-Weinberg Equilibrium; genetic drift; effective population size, population substructure, inbreeding and inbreeding depression; genetic adaptation including epigenetics and genetic plasticity; and heritability.
2. Demonstrate an in-depth understanding of the molecular laboratory techniques used routinely in human forensic analysis and population genetic analysis including sex typing, Short-Tandem Repeat (STR) DNA profiling, Single Nucleotide Polymorphism (SNP) detection, Sanger DNA sequencing and Next Generation Sequencing.
3. Perform the statistical analysis of genetic data relevant to forensic, conservation, quantitative and evolutionary genetics, and summarise and critically interpret the outcomes. This will be done by hand, calculator, and other statistical software including the widely-used package R.
4. Learn how to use the genetic software GenAlEx, then using this package analyse 1 or more DNA databases to statistically test whether the assumptions made in forensic DNA analysis hold. Based on this statistical analysis and a critical evaluation of the literature, write a scientific report that demonstrates an in-depth knowledge of the strengths and limitations of forensic DNA analysis.
5. Search the literature to identify papers relevant to the genetic data sets provided for statistical analysis and integrate and evaluate the findings in written form.

Examination Material or equipment

This will be a 3 hr online exam, and my require the use of Proctorio. The exam will be scheduled by examinations in the final exam period. A minimum mark of 45% on this exam is required to pass the course.

Required Resources

You are required to bring a hard copy of the relevant pages of the practical manual to the practical sessions. A pdf of the manual is provided online on the course Wattle site.

Recommended Resources

Although we do not strictly follow a textbook, where possible we refer students to the text adopted in BIOL2161: Pierce, B (2020) Genetics a conceptual approach. 7th Ed Freeman, or Pierce, B (2017) Genetics a conceptual approach. 6th Ed (Both these, and even earlier editions, are appropriate). Copies of these and other relevant reading material are placed on short-term loan in the library. The library also provides access to an online copy of Pierce (2020), and other relevant reading material electronically.

Recommended student system requirements 

ANU courses commonly use a number of online resources and activities including:

• video material, similar to YouTube, for lectures and other instruction
• two-way video conferencing for interactive learning
• email and other messaging tools for communication
• interactive web apps for formative and collaborative activities
• print and photo/scan for handwritten work
• home-based assessment.

To fully participate in ANU learning, students need:

• A computer or laptop. Mobile devices may work well but in some situations a computer/laptop may be more appropriate.
• Webcam
• Speakers and a microphone (e.g. headset)
• Reliable, stable internet connection. Broadband recommended. If using a mobile network or wi-fi then check performance is adequate.
• Suitable location with minimal interruptions and adequate privacy for classes and assessments.
• Printing, and photo/scanning equipment

For more information please see https://www.anu.edu.au/students/systems/recommended-student-system-requirements

Staff Feedback

Students will be given feedback in the following forms in this course:

• Written comments
• Verbal comments
• Feedback to the whole class, to groups, to individuals, focus groups

Student Feedback

ANU is committed to the demonstration of educational excellence and regularly seeks feedback from students. Students are encouraged to offer feedback directly to their Course Convener or through their College and Course representatives (if applicable). The feedback given in these surveys is anonymous and provides the Colleges, University Education Committee and Academic Board with opportunities to recognise excellent teaching, and opportunities for improvement. The Surveys and Evaluation website provides more information on student surveys at ANU and reports on the feedback provided on ANU courses.

Class Schedule

Week/Session	Summary of Activities	Assessment
1	Weeks 1-6 Up to 3x pre-recorded online lectures per week, 1x 1hr tutorial per week, 1x 3 hr practical for weeks 2, 4, 5 & 6	Assignments 1 & 2, and mini-assessment
2	Weeks 7-12 Up to 3x pre-recorded online lectures per week, 1x 1hr tutorial per week, 1x 1hr computer based tutorial for weeks 9 & 10	Assignment 3, and mini-assessment

Tutorial Registration

Please access the course in Wattle to self register for the practical and tutorial sessions.

Assessment Summary

Assessment task	Value	Due Date	Return of assessment	Learning Outcomes
Introduction to Forensic DNA analysis	15 %	31/03/2021	30/04/2021	1,2,3,5
The statistics of Forensic DNA analysis	25 %	28/04/2021	28/05/2021	1,2,3,4,5
Quantitative Genetics	10 %	19/05/2021	02/06/2021	1,3,5
Mini-assessment	10 %	*	*	1,2,3,5
Final Exam	40 %	03/06/2021	01/07/2021	1,2,3

* If the Due Date and Return of Assessment date are blank, see the Assessment Tab for specific Assessment Task details

Policies

ANU has educational policies, procedures and guidelines, which are designed to ensure that staff and students are aware of the University’s academic standards, and implement them. Students are expected to have read the Academic Misconduct Rule before the commencement of their course. Other key policies and guidelines include:

• Student Assessment (Coursework) Policy and Procedure
• Special Assessment Consideration Policy and General Information
• Student Surveys and Evaluations
• Deferred Examinations
• Student Complaint Resolution Policy and Procedure

Assessment Requirements

The ANU is using Turnitin to enhance student citation and referencing techniques, and to assess assignment submissions as a component of the University's approach to managing Academic Integrity. For additional information regarding Turnitin please visit the ANU Online website Students may choose not to submit assessment items through Turnitin. In this instance you will be required to submit, alongside the assessment item itself, hard copies of all references included in the assessment item.

Moderation of Assessment

Marks that are allocated during Semester are to be considered provisional until formalised by the College examiners meeting at the end of each Semester. If appropriate, some moderation of marks might be applied prior to final results being released.

Participation

All students are very strongly encouraged to participate in one of the scheduled 1 hr face-to-face tutorial sessions each week, or the online equivalent for remote students. These sessions will focus on the theory and calculations relevant to the regular mini-assessment (worth a total of 10% of the total course marks). Attendance at the 4x wet lab practical sessions is compulsory, unless taking the course as a remote student, who will be required to attend alternative live online learning sessions.

Examination(s)

One final exam, worth 40% of the total course marks. A minimum of 45% in this final exam is required to pass the course.

Assessment Task 1

Introduction to Forensic DNA analysis

For this assignment you are required to demonstrate an in-depth understanding of the molecular laboratory techniques used in the practical sessions across weeks 1 to 6. You will demonstrate your understanding by providing answers to a series of questions on the content and outcomes of the practical sessions. You must provide these answers, using relevant literature with supporting references, in the digital template provided on Wattle. For full instructions, including details on the format and page limits for this assignment, please refer to the course Wattle site. Please note, that the return date of assessment is indicative only.

Assessment Task 2

The statistics of Forensic DNA analysis

In this assignment you will first learn how to use the genetic software GenAlEx. Using this package, you will then analyse one or more DNA databases to statistically test whether the assumptions made in forensic DNA analysis hold. Finally, based on this statistical analysis and a critical evaluation of the literature, you will write a scientific report that demonstrates an in-depth knowledge of the strengths and limitations of forensic DNA analysis. The report will include statistical analysis, interpretation and use relevant literature with supporting references, as outlined in the assignment instructions. Please refer to the course Wattle site for the full instructions, including details on the format and page limits for this assignment. Please note, that the return date of assessment is indicative only.

Assessment Task 3

Quantitative Genetics

Completion of this assignment will require you to first use the computer software R, to perform some quantitative genetic calculations. You are then required to prepare a short report which will demonstrate that you can explain to an audience of subject matter experts the key concepts in quantitative genetics. The report will includes statistical analysis, interpretation and the use of relevant literature and supporting references, as outlined in the assignment instructions. Please refer to the course Wattle site for the full instructions, including details on the format and page limits for this assignment. Please note, that the return date of assessment is indicative only.

Assessment Task 4

Mini-assessment

Small regular assessment tasks tied to the online lecture content, with max 2% per task for a total of 10%. The tasks are spread across the course at approximately 10 to 14 day intervals. In completing these tasks, you will demonstrate an ability to explain to an audience of subject matter experts some of the key concepts in population, evolutionary and quantitative genetics including: Hardy-Weinberg Equilibrium; DNA profile probabilities, genetic drift; effective population size, population substructure, inbreeding; genetic adaptation and heritability.

Assessment Task 5

Final Exam

This will be a 3 hr online exam, and my require the use of Proctorio. The exam will be scheduled by examinations in the final exam period. A minimum mark of 45% on this exam is required to pass the course.

Please note, that where a date range is used in the Assessment Summary in relation to exams, the due date and return date indicate the approximate timeframe in which the exam will be held. Students should consult the course wattle site and the ANU final examination timetable to confirm the date, time and venue of the exam.

Academic Integrity

Academic integrity is a core part of our culture as a community of scholars. At its heart, academic integrity is about behaving ethically. This means that all members of the community commit to honest and responsible scholarly practice and to upholding these values with respect and fairness. The Australian National University commits to embedding the values of academic integrity in our teaching and learning. We ensure that all members of our community understand how to engage in academic work in ways that are consistent with, and actively support academic integrity. The ANU expects staff and students to uphold high standards of academic integrity and act ethically and honestly, to ensure the quality and value of the qualification that you will graduate with. The University has policies and procedures in place to promote academic integrity and manage academic misconduct. Visit the following Academic honesty & plagiarism website for more information about academic integrity and what the ANU considers academic misconduct. The ANU offers a number of services to assist students with their assignments, examinations, and other learning activities. The Academic Skills and Learning Centre offers a number of workshops and seminars that you may find useful for your studies.

Online Submission

The ANU uses Turnitin to enhance student citation and referencing techniques, and to assess assignment submissions as a component of the University's approach to managing Academic Integrity. While the use of Turnitin is not mandatory, the ANU highly recommends Turnitin is used by both teaching staff and students. For additional information regarding Turnitin please visit the ANU Online website.

Hardcopy Submission

For some forms of assessment (hand written assignments, art works, laboratory notes, etc.) hard copy submission is appropriate when approved by the Associate Dean (Education). Hard copy submissions must utilise the Assignment Cover Sheet. Please keep a copy of tasks completed for your records.

Late Submission

Late submission of assessment tasks without an extension are penalised at the rate of 5% of the possible marks available per working day or part thereof. Late submission of assessment tasks is not accepted after 10 working days after the due date, or on or after the date specified in the course outline for the return of the assessment item. Late submission is not accepted for take-home examinations.

Referencing Requirements

Accepted academic practice for referencing sources that you use in presentations can be found via the links on the Wattle site, under the file named “ANU and College Policies, Program Information, Student Support Services and Assessment”. Alternatively, you can seek help through the Students Learning Development website.

Returning Assignments

Electronic submission is required for all assignments, including those assignments requiring hand calculations. Accordingly, all feedback and marks will be returned electronically.

Extensions and Penalties

Extensions and late submission of assessment pieces are covered by the Student Assessment (Coursework) Policy and Procedure The Course Convener may grant extensions for assessment pieces that are not examinations or take-home examinations. If you need an extension, you must request an extension in writing on or before the due date. If you have documented and appropriate medical evidence that demonstrates you were not able to request an extension on or before the due date, you may be able to request it after the due date.

Resubmission of Assignments

It is not possible to resubmit assignments in this course.

Privacy Notice

The ANU has made a number of third party, online, databases available for students to use. Use of each online database is conditional on student end users first agreeing to the database licensor’s terms of service and/or privacy policy. Students should read these carefully. In some cases student end users will be required to register an account with the database licensor and submit personal information, including their: first name; last name; ANU email address; and other information. In cases where student end users are asked to submit ‘content’ to a database, such as an assignment or short answers, the database licensor may only use the student’s ‘content’ in accordance with the terms of service — including any (copyright) licence the student grants to the database licensor. Any personal information or content a student submits may be stored by the licensor, potentially offshore, and will be used to process the database service in accordance with the licensors terms of service and/or privacy policy. If any student chooses not to agree to the database licensor’s terms of service or privacy policy, the student will not be able to access and use the database. In these circumstances students should contact their lecturer to enquire about alternative arrangements that are available.

Distribution of grades policy

Academic Quality Assurance Committee monitors the performance of students, including attrition, further study and employment rates and grade distribution, and College reports on quality assurance processes for assessment activities, including alignment with national and international disciplinary and interdisciplinary standards, as well as qualification type learning outcomes. Since first semester 1994, ANU uses a grading scale for all courses. This grading scale is used by all academic areas of the University.

Support for students

The University offers students support through several different services. You may contact the services listed below directly or seek advice from your Course Convener, Student Administrators, or your College and Course representatives (if applicable).

• ANU Health, safety & wellbeing for medical services, counselling, mental health and spiritual support
• ANU Diversity and inclusion for students with a disability or ongoing or chronic illness
• ANU Dean of Students for confidential, impartial advice and help to resolve problems between students and the academic or administrative areas of the University
• ANU Academic Skills and Learning Centre supports you make your own decisions about how you learn and manage your workload.
• ANU Counselling Centre promotes, supports and enhances mental health and wellbeing within the University student community.
• ANUSA supports and represents undergraduate and ANU College students
• PARSA supports and represents postgraduate and research students