Biology subjects

Peter, B. M.

Publications and source records attributed to Peter, B. M..

15 recordsLinked to original sources

bioRxiv2026

A Method to Analyze Low-Quality Archaic Human Genomes and its Application to the Teshik-Tash 1 Neandertal

The Teshik-Tash 1 child whose remains were found in Uzbekistan represents the southeastern-most extent of the known Neandertal range, providing an important link with the better studied Caucasus and Altai Mountain ranges. However, due to poor DNA preservation, studying the genetics of Teshik Tash 1 has remained elusive. Here we present analyses of the nuclear DNA from the Teshik-Tash 1, from extracts that are highly contaminated with present-day human DNA. To achieve this, we developed a new computational method, admixslug, that jointly models contamination and population relationships, in order to infer the relationship of a target individual from which only low-quality nuclear DNA is available, to high-quality archaic human genomes. After validating admixslug, we show that Teshik-Tash 1 is genetically more similar to later Neandertals from Western Eurasia than to older Neandertals from the Altai Mountains. We estimate that Teshik-Tash 1 split from the Western Eurasian lineage between 80,000 and 100,000 years ago. Despite the geographical proximity of Teshik-Tash 1 to the Denisovan range, we find no evidence for Denisovan ancestry in his genome. Our results demonstrate that admixslug enables the study of archaic human specimens in cases where DNA preservation was previously considered too poor for population genetic analyses.

genetics↗

bioRxiv2026

Inferring Migration Networks with Time-Lagged F2 Statistics

Major demographic events, such as population bottlenecks, founder effects, range expansions, and admixture events, have left lasting imprints on human genetic diversity. Ancient DNA (aDNA) sequencing now makes it increasingly possible to observe these signals across time, opening new avenues to address long-standing questions in human demographic history. Yet, deciphering this genetic archive of demographic history is challenging due to high levels of noise, and the complex ways in which demographic processes shape genetic variation. Here, leveraging the linear time evolution of the expectation of neutral allele frequencies, we develop a method to uncover systematic patterns of gene flow from metapopulation time-series data. We show that directional migration rates can be inferred via linear regression on time-dependent genetic dissimilarity between populations, quantified by an extended F2 statistic evaluated between successive time points. Despite small sample sizes, the method reliably infers migration rates from simulated data by integrating information across multiple time slices. Applied to aDNA sampled from the last 6000 years, we recover signals of well-documented migrations and infer an ancient pan-European migration network. While complementing existing tools that estimate static ancestry proportions, our framework tracks how ancestry is dynamically redistributed through time.

evolutionary biology↗

bioRxiv2025

A high-coverage genome from a 200,000-year-old Denisovan

Denisovans, an extinct sister group of Neandertals who lived in Eastern Eurasia during the Middle and Late Pleistocene, are known only from a handful of skeletal remains and limited genetic data, including the high-coverage genome of a woman who lived [~]65,000 years ago. Here, we present a second high-quality Denisovan genome, reconstructed from a molar found at Denisova Cave. It belonged to a man who lived [~]200,000 years ago in a small Denisovan group. This group mixed with early Neandertals and was then replaced by Denisovans who had mixed with later Neandertals. We show that in addition Denisovans received gene flow from hominins that diverged before the split of the ancestors of Denisovans and modern humans. The two Denisovan genomes allow us to disentangle Denisovan ancestry in present-day humans revealing contributions from at least three distinct Denisovan groups. In particular, Oceanians and South Asians independently inherited DNA from a deeply diverged Denisovan population which was likely isolated in South Asia. This supports an early migration of the ancestors of Oceanians through South Asia followed by the later arrival of the ancestors of present-day South Asians. East Asians do not share this Denisovan component in their genomes, suggesting that their ancestors arrived independently, perhaps by a northerly route. Finally, the two high-quality Denisovan genomes allow us to refine the catalogue of genetic changes that arose on the Denisovan lineage, some of which were contributed to present-day humans.

genomics↗

bioRxiv2024

A joint framework for studying population structure using principal component analysis and F-statistics

Principal component analysis (PCA) and F-statistics are routinely used in population genetic and archaeogenetic studies. Here, we present a statistical framework to combine them into a joint analysis, showing where they coincide, and where slightly different assumptions made can lead to different outcomes. In particular, we discuss the differences of probabilistic PCA, Latent Subspace Estimation and classical PCA, and show that F-statistics are more naturally interpreted in a probabilistic PCA framework. We also show that individual-based F-statistics can be accurately estimated from probabilistic PCA in the presence of large amounts of missing data. We compare estimates from probabilistic PCA-based framework to ADMIXTOOLS 2 using simulations and published data, and show that this joint estimation framework addresses limitations of estimating F-statistics and PCA independently.

evolutionary biology↗

bioRxiv2024

Neandertal ancestry through time: Insights from genomes of ancient and present-day humans

Gene flow from Neandertals has shaped the landscape of genetic and phenotypic variation in modern humans. We identify the location and size of introgressed Neandertal ancestry segments in more than 300 genomes spanning the last 50,000 years. We study how Neandertal ancestry is shared among individuals to infer the time and duration of the Neandertal gene flow. We find the correlation of Neandertal segment locations across individuals and their divergence to sequenced Neandertals, both support a model of single major Neandertal gene flow. Our catalog of introgressed segments through time confirms that most natural selection-positive and negative-on Neandertal ancestry variants occurred immediately after the gene flow, and provides new insights into how the contact with Neandertals shaped human origins and adaptation.

evolutionary biology↗

bioRxiv2022

KIN: A method to infer relatedness from low-coverage ancient DNA

Genetic kinship of ancient individuals can provide insights into their culture and social hierarchy, and is relevant for downstream genetic analyses. However, estimating relatedness from ancient DNA is difficult due to low-coverage, ascertainment bias, or contamination from various sources. Here, we present KIN, a method to estimate the relatedness of a pair of individuals from the identical-by-descent segments they share. KIN accurately classifies up to 3rd-degree relatives using [≥] 0.05x sequence coverage and differentiates siblings from parent-child. It incorporates additional models to adjust for contamination and detect inbreeding, which improves classification accuracy.

genetics↗

bioRxiv2022

Assessing human genome-wide variation in the Massim region of Papua New Guinea and implications for the Kula trading tradition

The Massim, a cultural region encompassing the southeastern tip of mainland Papua New Guinea (PNG) and nearby islands, is famous for the Kula trading network, in which different valuables circulate in different directions among the islands. To explore Massim genetic history, we generated genome-wide data from across the region and found variable levels of Papuan-related (indigenous) ancestry, including a novel ancestry associated with Rossel Island, and Austronesian-related ancestry that arrived later. We find genetic evidence for different patterns of contact across PNG, the Massim, and the Bismarck and Solomon Archipelagoes for Austronesian-related vs. Papuan-related ancestry, with more geographic restriction for the latter. Moreover, Kula-practicing groups share more genetic similarity than do other groups, and this likely predates the origin of Kula, suggesting that high between-group contact facilitated the formation of Kula. Our study provides the first comprehensive genome-wide assessment of Massim inhabitants and new insights into the fascinating Kula system.

genomics↗

bioRxiv2021

The evolutionary history of human spindle genes includes back-and-forth gene flow with Neandertals

Proteins associated with the spindle apparatus, a cytoskeletal structure that ensures the proper segregation of chromosomes during cell division, experienced an unusual number of amino acid substitutions in modern humans after the split from the ancestors of Neandertals and Denisovans. Here, we analyze the history of these substitutions and show that some of the genes in which they occur may have been targets of positive selection. We also find that the two changes in the kinetochore scaffold 1 (KNL1) protein, previously believed to be specific to modern humans, were present in some Neandertals. We show that the KNL1 gene of these Neandertals shared a common ancestor with present-day Africans about 200,000 years ago due to gene flow from the ancestors (or relatives) of modern humans into Neandertals. Subsequently, some non-Africans inherited this modern human-like gene variant from Neandertals, but none inherited the ancestral gene variants. These results add to the growing evidence of early contacts between modern humans and archaic groups in Eurasia and illustrate the intricate relationships among these groups.

evolutionary biology↗

bioRxiv2021

Modelling complex population structure using F-statistics and Principal Component Analysis

Human genetic diversity is shaped by our complex history. Data-driven methods such as Principal Component Analysis (PCA) are an important population genetic tool to understand this method. Here, I contrast PCA with a set of statistics motivated by trees (F-statistics). Here, I show that these two methods are closely related, and I derive explicit connections between the two approaches. I show that F-statistics have a simple geometrical interpretation in the context of PCA, and that orthogonal projections are the key concept to establish this link. I illustrate my results on two examples, one of local, and one of global human diversity. In both examples, I find that just using the first few PCs provides good population structure is sparse, and only a few components contribute to most statistics. Based on these results, I develop novel visualizations that allow for investigating specific hypotheses, checking the assumptions of more sophisticated models. My results extend F-statistics to non-discrete populations, moving towards more complete and less biased descriptions of human genetic variation.

evolutionary biology↗

bioRxiv2021

An extended admixture pulse model reveals the limits to the dating of Human-Neandertal introgression

Neandertal DNA makes up 2-3% of the genomes of all non-African individuals. The patterns of Neandertal ancestry in modern humans have been used to estimate that this is the result of gene flow that occurred during the expansion of modern humans into Eurasia, but the precise dates of this event remain largely unknown. Here, we introduce an extended admixture pulse model that allows joint estimation of the timing and duration of gene flow. This model leads to simple expressions for both the admixture segment distribution and the decay curve of ancestry linkage disequilibrium, and we show that these two statistics are closely related. In simulations, we find that estimates of the mean time of admixture are largely robust to details in gene flow models, but that the duration of the gene flow can only be recovered if gene flow is very recent and the exact recombination map is known. These results imply that gene flow from Neandertals into modern humans could have happened over hundreds of generations. Ancient genomes from the time around the admixture event are thus likely required to resolve the question when, where, and for how long humans and Neandertals interacted.

evolutionary biology↗

bioRxiv2021

Different historical generation intervals in human populations inferred from Neanderthal fragment lengths and patterns of mutation accumulation

After the main out-of-Africa event, humans interbred with Neanderthals leaving 1-2% of Neanderthal DNA scattered in small fragments in all non-African genomes today1,2. Here we investigate the size distribution of these fragments in non-African genomes3. We find consistent differences in fragment length distributions across Eurasia with 11% longer fragments in East Asians than in West Eurasians. By comparing extant populations and ancient samples, we show that these differences are due to a different rate of decay in length by recombination since the Neanderthal admixture. In line with this, we observe a strong correlation between the average fragment length and the accumulation of derived mutations, similar to what is expected by changing the ages at reproduction as estimated from trio studies4. Altogether, our results suggest consistent differences in the generation interval across Eurasia, by up to 20% (e.g. 25 versus 30 years), over the past 40,000 years. We use sex-specific accumulations of derived alleles to infer how these changes in generation intervals between geographical regions could have been mainly driven by shifts in either male or female age of reproduction, or both. We also find that previously reported variation in the mutational spectrum5 may be largely explained by changes to the generation interval and not by changes to the underlying mutational mechanism. We conclude that Neanderthal fragment lengths provide unique insight into differences of a key demographic parameter among human populations over the recent history.

evolutionary biology↗

bioRxiv2020

Denisovan ancestry and population history of early East Asians

We present analyses of the genome of a ~34,000-year-old hominin skull cap discovered in the Salkhit Valley in North East Mongolia. We show that this individual was a female member of a modern human population that, following the split between East and West Eurasians, experienced substantial gene flow from West Eurasians. Both she and a 40,000-year-old individual from Tianyuan outside Beijing carried genomic segments of Denisovan ancestry. These segments derive from the same Denisovan admixture event(s) that contributed to present-day mainland Asians but are distinct from the Denisovan DNA segments in present-day Papuans and Aboriginal Australians.

evolutionary biology↗

bioRxiv2020

100,000 years of gene flow between Neandertals and Denisovans in the Altai mountains

Summary paragraphThe Siberian Altai mountains have been intermittently occupied by both Neandertals and Denisovans, two extinct hominin groups1,2. While they diverged at least 390,000 years ago3,4, later contacts lead to gene flow from Neandertals into Denisovans5,6. Using a new population genetic method that is capable of inferring signatures of admixture from highly degraded genetic data, I show that this gene flow was much more widespread than previously thought. While the two earliest Denisovans both have substantial and recent Neandertal ancestry, I find signatures of admixture in all archaic genomes from the Altai, demonstrating that gene flow also occurred from Denisovans into Neandertals. This suggests that a contact zone between Neandertals and Denisovan populations persisted in the Altai region throughout much of the Middle Paleolithic. In contrast, Western Eurasian Neandertals have little to no Denisovan ancestry. As I find no evidence of natural selection against gene flow, this suggests that neutral demographic processes and geographic isolation were likely major drivers of human differentiation.

evolutionary biology↗

bioRxiv2020

AuthentiCT: a model of ancient DNA damage to estimate the proportion of present-day DNA contamination

SummaryContamination from present-day DNA is a fundamental issue when studying ancient DNA from historical or archaeological material, and quantifying the amount of contamination is essential for downstream analyses. We present AuthentiCT, a command-line tool to estimate the proportion of present-day DNA contamination in ancient DNA datasets generated from single-stranded DNA libraries. The prediction is based solely on the patterns of post-mortem damage observed on ancient DNA sequences. The method has the power to quantify contamination from as few as 10,000 mapped sequences, making it particularly useful for analysing specimens that are poorly preserved or for which little data is available. Contactstephane.peyregne@gmail.com

evolutionary biology↗

bioRxiv2017

Genetic landscapes reveal how human genetic diversity aligns with geography

Geographic patterns in human genetic diversity carry footprints of population history1,2 and provide insights for genetic medicine and its application across human populations3,4. Summarizing and visually representing these patterns of diversity has been a persistent goal for human geneticists5-10, and has revealed that genetic differentiation is frequently correlated with geographic distance. However, most analytical methods to represent population structure11-15 do not incorporate geography directly, and it must be considered post hoc alongside a visual summary. Here, we use a recently developed spatially explicit method to estimate \"effective migration\" surfaces to visualize how human genetic diversity is geographically structured (the EEMS method16). The resulting surfaces are \"rugged\", which indicates the relationship between genetic and geographic distance is heterogenous and distorted as a rule. Most prominently, topographic and marine features regularly align with increased genetic differentiation (e.g. the Sahara desert, Mediterranean Sea or Himalaya at large scales; the Adriatic, interisland straits in near Oceania at smaller scales). In other cases, the locations of historical migrations and boundaries of language families align with migration features. These results provide visualizations of human genetic diversity that reveal local patterns of differentiation in detail and emphasize that while genetic similarity generally decays with geographic distance, there have regularly been factors that subtly distort the underlying relationship across space observed today. The fine-scale population structure depicted here is relevant to understanding complex processes of human population history and may provide insights for geographic patterning in rare variants and heritable disease risk.

evolutionary biology↗