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Evolutionary Basis of Human Genetic Variation

Code: B4005     Acronym: B4005

Classification Keyword

Instance: 2022/2023 - 2S Ícone do Moodle

Active? Yes
Responsible unit: Department of Biology
Course/CS Responsible: Master's degree in Biodiversity, Genetics and Evolution

Cycles of Study/Courses

Acronym No. of Students Study Plan Curricular Years Credits UCN Credits ECTS Contact hours Total Time
M:BGE 2 Official Study Plan 1 - 6 42 162

Teaching Staff - Responsibilities

Teacher Responsibility
Jorge Macedo Rocha
António Emilio Ferrand de Almeida Múrias dos Santos

Teaching - Hours

Theoretical classes: 2,10
Theoretical and practical : 0,90
Type Teacher Classes Hour
Theoretical classes Totals 1 2,10
António Emilio Ferrand de Almeida Múrias dos Santos 0,00
Jorge Macedo Rocha 2,10
Theoretical and practical Totals 1 0,90
António Emilio Ferrand de Almeida Múrias dos Santos 0,00
Jorge Macedo Rocha 0,90

Teaching language

Obs.: Opcionalmente em português



The objective of this course is to couple population genetics theory with empirical studies of human variation to provide an overview of the role of different evolutionary factors in shaping the current biological diversity of human populations.

Learning outcomes and competences


The students will be able to deal with the most important aspects of human genetic diversity studies. The theoretical framing of questions related with human diversity will be useful for studying the population genetics of other species. 

Working method



We will address both landmark concepts and empirical results in the field of human genetic diversity as well as recent developments based on new technological and theoretical insights, including studies on genome wide patterns of variation. The course will explore the links between key population genetic models and observed patterns of genetic variation in human populations both at local and global scales. Topics include: human genetic diversity (measurement and evolutionary significance); population structure (models and interpretations); human origins and history (controversies and major results); linkage disequilibrium and recombination (patterns and implications); natural selection (detection of molecular signatures and neutrality tests); genetic architecture of complex traits (models and difficulties); population genetic models of human disease (evolutionary framework and disease mapping).



Mandatory literature

MA Jobling, ME Hurles and C Tyler-Smith (; Human Evolutionary Genetics, Garland Science, 2004
DL Hartl and A Clark ; Principles of Population Genetics, Sinauer Associates, 2007

Complementary Bibliography

J Klein and N Takahata; Where do we come from? The molecular evidence for human descent, Springer , 2002

Teaching methods and learning activities


The format will include lectures, discussion of research papers and practical classes consisting mostly on problem-solving computer labs aimed to introduce useful software resources.

Evaluation Type

Evaluation with final exam

Assessment Components

designation Weight (%)
Prova oral 15,00
Teste 85,00
Total: 100,00

Amount of time allocated to each course unit

designation Time (hours)
Estudo autónomo 60,00
Frequência das aulas 42,00
Trabalho escrito 60,00
Total: 162,00

Eligibility for exams

Attendance of 75% of lectures

Calculation formula of final grade

O x 0.15+T*0.85

O=Oral examination

T=Writen examination

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