Preface
Human population genomics is an exciting and rapidly changing field. Over the past
decade, there has been a deluge of genetic variation data from the entire genome of
individuals from many populations. These data have allowed us an unprecedented
look at human history and how natural selection has impacted humans during this
journey. Simultaneously, there have been increased efforts to determine how genetic
variation affects complex traits in humans. Due to technological and methodological
advances, progress has been made at determining the architecture of complex traits.
Because the field is so rapidly evolving, it can become difficult for newcomers
to gain footing in the morass of technical concepts of population genetics, complex
trait genetics, and data analysis. This is unfortunate as human population genomics
brings together researchers from disparate areas of expertise, including computer
science, statistics, medicine, genetics, evolution, and anthropology.
This book represents our modest attempt to make the highly technical and
contemporary aspects of the field of human population genomics more accessible to
researchers in all these groups. We wanted to start with the basics, but then include
more advanced and current research. Thus, we hope that this book can serve as a
gateway to modern human population genetics research for those new to the field.
We hope that seasoned practitioners will also find it as a useful reference on their
shelf.
The book has three parts. The first part provides an introduction to essential
concepts in population genetics. These chapters will be useful for learning some of
the more arcane, but important, concepts in population genetics, which are relevant
for any organism. The second part covers the genetics of complex traits in humans.
The third part of the book focuses on applying these techniques and concepts to
genetic variation data to learn about demographic history and natural selection in
humans.
In Chap. 1, Wakeley provides an introduction to one of the most useful tools in
population genetics, the coalescent. The coalescent is used ubiquitously throughout
population genetics, and an understanding of it will help develop intuition about
how evolutionary forces impact genetic variation. In Chap. 2, Slatkin provides
a discussion of linkage disequilibrium. While linkage disequilibrium may have
originally been an esoteric theoretical topic with little practical value, it has become
an essential phenomenon for associating genetic variation with complex traits. In
Chap. 3, Skoglund and colleagues discuss tools used to measure and quantify human
vii
Human population genomics is an exciting and rapidly changing field. Over the past
decade, there has been a deluge of genetic variation data from the entire genome of
individuals from many populations. These data have allowed us an unprecedented
look at human history and how natural selection has impacted humans during this
journey. Simultaneously, there have been increased efforts to determine how genetic
variation affects complex traits in humans. Due to technological and methodological
advances, progress has been made at determining the architecture of complex traits.
Because the field is so rapidly evolving, it can become difficult for newcomers
to gain footing in the morass of technical concepts of population genetics, complex
trait genetics, and data analysis. This is unfortunate as human population genomics
brings together researchers from disparate areas of expertise, including computer
science, statistics, medicine, genetics, evolution, and anthropology.
This book represents our modest attempt to make the highly technical and
contemporary aspects of the field of human population genomics more accessible to
researchers in all these groups. We wanted to start with the basics, but then include
more advanced and current research. Thus, we hope that this book can serve as a
gateway to modern human population genetics research for those new to the field.
We hope that seasoned practitioners will also find it as a useful reference on their
shelf.
The book has three parts. The first part provides an introduction to essential
concepts in population genetics. These chapters will be useful for learning some of
the more arcane, but important, concepts in population genetics, which are relevant
for any organism. The second part covers the genetics of complex traits in humans.
The third part of the book focuses on applying these techniques and concepts to
genetic variation data to learn about demographic history and natural selection in
humans.
In Chap. 1, Wakeley provides an introduction to one of the most useful tools in
population genetics, the coalescent. The coalescent is used ubiquitously throughout
population genetics, and an understanding of it will help develop intuition about
how evolutionary forces impact genetic variation. In Chap. 2, Slatkin provides
a discussion of linkage disequilibrium. While linkage disequilibrium may have
originally been an esoteric theoretical topic with little practical value, it has become
an essential phenomenon for associating genetic variation with complex traits. In
Chap. 3, Skoglund and colleagues discuss tools used to measure and quantify human
vii