A unified genealogy of modern and ancient genomes

Author:

Wohns Anthony Wilder12ORCID,Wong Yan2ORCID,Jeffery Ben2ORCID,Akbari Ali134ORCID,Mallick Swapan15ORCID,Pinhasi Ron6ORCID,Patterson Nick1345ORCID,Reich David1345ORCID,Kelleher Jerome2ORCID,McVean Gil2ORCID

Affiliation:

1. Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.

2. Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7LF, UK.

3. Department of Human Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.

4. Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.

5. Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA.

6. Department of Evolutionary Anthropology, University of Vienna, 1090 Vienna, Austria.

Abstract

The sequencing of modern and ancient genomes from around the world has revolutionized our understanding of human history and evolution. However, the problem of how best to characterize ancestral relationships from the totality of human genomic variation remains unsolved. Here, we address this challenge with nonparametric methods that enable us to infer a unified genealogy of modern and ancient humans. This compact representation of multiple datasets explores the challenges of missing and erroneous data and uses ancient samples to constrain and date relationships. We demonstrate the power of the method to recover relationships between individuals and populations as well as to identify descendants of ancient samples. Finally, we introduce a simple nonparametric estimator of the geographical location of ancestors that recapitulates key events in human history.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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