Abstracts (first author)

Invited Speaker 

Genetic genealogy comes of age: advances in the use of deep-rooted pedigrees in human evolutionary research

Author(s): Larmuseau MHD, Van Geystelen A, Decorte R


Research on the recent human evolution will benefit from the implementation of extended genetic genealogical data. The approach to combine deep-rooted pedigrees with genetic information advances the understanding of changes in the human population genetic structure during the last centuries. This recent advance is mainly based on the extensive growth of whole genome sequencing data and available genealogical data of high quality. Moreover, according to the latest genetic genealogical research the historical non-paternity rate in Western Europe is estimated around 1% per generation within the last four centuries, which means that the expected relationship between the legal genealogy and the genetics of DNA donors exists. Therefore, genetic genealogical data will help with three research aims of human evolutionary studies: (I) detecting signals of (past) population stratification and interpreting the population structure in a more objective manner, (II) obtaining the time scale and impact of particular detected gene flow events more accurately and (III) determining temporal genetic differentiation within a population by combining in-depth pedigree data with haploid markers. Each of these research aims will be discussed with examples of the human population in Flanders (Western Europe). At the end, we will discuss the advantages and pitfalls of using genetic genealogy within studies on human evolutionary genomics.

Abstracts (coauthor)


The sex-determining Y-chromosome is an interesting marker for many human evolutionary and population genetic studies, as it accurately tracks patrilineal descent. For these studies a high-resolution state-of-the-art Y-chromosomal phylogeny is essential to characterize Y-chromosomes. Due to the rapid progress in next generation sequencing technologies, an explosion of human whole genome sequencing (WGS) data has become available. WGS data is useful to verify, optimize and extend the current phylogeny for haploid markers such as single nucleotide polymorphisms in the Y-chromosome (Y-SNPs). We present two new open access software packages which analyse WGS data for Y-chromosomal phylogenetic applications. First, the AMY-tree software determines the haplogroup for a sample based on the Y-SNPs derived from WGS experiments and it also indicates ambiguities such as recurrent SNPs within the used tree. Because of these features AMY-tree is able to include all reported Y-SNPs within one phylogenetic framework. Second, the PENNY software detects new informative Y-SNPs from WGS data by in silico analysis to increase the resolution of the Y-chromosomal tree. The AMY-tree and PENNY software and all their capabilities were tested in detail on more than 750 male full genomes with different geographical origins. An analysis of these data provides a much more detailed tree than the last 'officially' published tree of the Y Chromosome Consortium (YCC) in 2008. On the other hand, further sequencing will still be required since currently full genomes of only a limited set of Y-chromosomal (sub-)haplogroups are available. Overall, these advances of the Y-chromosomal tree will provide many applications for research on recent human evolution.


Chairman: Octávio S. Paulo
Tel: 00 351 217500614 direct
Tel: 00 351 217500000 ext22359
Fax: 00 351 217500028
email: mail@eseb2013.com


XIV Congress of the European Society for Evolutionary Biology

Organization Team
Department of Animal Biology (DBA)
Faculty of Sciences of the University of Lisbon
P-1749-016 Lisbon


Computational Biology & Population Genomics Group