David Reich’s research while affiliated with Harvard University and other places

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Publications (757)


Principal Component Analysis (PCA)
PCA performed with 879 modern Eurasian individuals in which the ancient individuals were projected. The modern individuals have been removed from the image. The PCA shows the clustering of the LBK and the position of individuals along the X axis, indicating differential WHG affinities and showing that WHG (represented by two Körös culture outliers with entirely WHG ancestry) are more closely related to ALPC. Three individuals: I6914 (Austria_LBK) and I1507, I497 (Köros) are outliers.
QpWave plots
qpWave plots to test for individual differentiation, with each population represented in one plot. Grey colour means results were highly significant (not consistent with being genetically homogeneous). The number after the name of each individual relates is the point estimate of WHG ancestry from qpAdm. A) ALPC individuals. Individuals I21898, I10349, I21902, I18660, I10350, I18656, I18695, I4186, I1499, I21714, and I2377 are labelled in our analysis as ALPC outliers with high WHG ancestry. Individuals: I21828, I21830, I10351, I10352, I10353, I18657, I21767, 17933, I1500, I2380, I3537, I17455, I18636, I29883, I18641 and I4187 are labelled in our analysis as ALPC outliers with low WHG ancestry. B) Austria LBK Individuals: Individuals I27785, I25349, I6913, I6912 and I24028 are labelled in our analysis as outliers with high WHG ancestry. C) Germany LBK Individuals, D) Slovakia LBK Individuals: Individual I18144 is labelled in our analysis as an outlier with high WHG ancestry. E) Transdanubia_Hungary LBK Individuals: individuals I1882 and I1883 are labelled in our analysis as outliers with high WHG ancestry. We used qpWave from admixtools to perform the plots, each square represents the two-sided p-value of every single test.
Parental haplogroups
A,B, Distribution of the Y chromosome and mtDNA haplogroups per population. The Y-axis represents the number of individuals.
Isotopic data
Isotope data from Pólgar-Ferenci-hát. Here we plot the ratio δ¹³C/δ¹⁵N. Each dot represents one individual and the colour denotes the family.
Runs of Homozygosity
ROH distribution in the dataset. A)LBK individuals, B) ALPC individuals, C) Koros and Starcevo individuals. Individuals with more than 400,000 SNPs and the assessed ROH. Individuals in the ALPC group show a higher rate of close-kin unions (as reflected in the presence of ROH segments >20 cM) than the rest of the dataset.

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Social and genetic diversity in first farmers of central Europe
  • Article
  • Full-text available

November 2024

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282 Reads

Nature Human Behaviour

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David Reich

The Linearbandkeramik (LBK) Neolithic communities were the first to spread farming across large parts of Europe. We report genome-wide data for 250 individuals: 178 individuals from whole-cemetery surveys of the Alföld Linearbankeramik Culture eastern LBK site of Polgár-Ferenci-hát, the western LBK site of Nitra Horné Krškany and the western LBK settlement and massacre site of Asparn-Schletz, as well as 48 LBK individuals from 16 other sites and 24 earlier Körös and Starčevo individuals from 17 more sites. Here we show a systematically higher percentage of western hunter-gatherer ancestry in eastern than in western LBK sites, showing that these two distinct LBK groups had different genetic trajectories. We find evidence for patrilocality, with more structure across sites in the male than in the female lines and a higher rate of within-site relatives for males. At Asparn-Schletz we find almost no relatives, showing that the massacred individuals were from a large population, not a small community.

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Assembling ancestors: the manipulation of Neolithic and Gallo-Roman skeletal remains at Pommeroeul, Belgium

October 2024

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246 Reads

Antiquity

Post-mortem manipulation of human bodies, including the commingling of multiple individuals, is attested throughout the past. More rarely, the bones of different individuals are assembled to create a single 'individual' for burial. Rarer still are composite individuals with skeletal elements separated by hundreds or even thousands of years. Here, the authors report an isolated inhumation within a Gallo-Roman-period cremation cemetery at Pommeroeul, Belgium. Assumed to be Roman, radiocarbon determinations show the burial is Late Neolithic-with a Roman-period cranium. Bioarchaeological analyses also reveal the inclusion of multiple Neolithic individuals of various ages and dates. The burial is explained as a composite Neolithic burial that was reworked 2500 years later with the addition of a new cranium and grave goods.


Disparate demographic impacts of the Roman Colonization and the Migration Period in the Iberian Peninsula

September 2024

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140 Reads

It has been unclear how the periods of Roman and later Germanic political control shaped the demography of the Iberian Peninsula and how Iberia differs in these respects from other parts of the Roman Empire. We report genome-wide data from 248 ancient individuals from the largely unsampled period 100-800 CE and co-analyze them with previously reported data. In the Roman era, we document profound demographic transformation, with an influx of people with ancestry from the Central and Eastern Mediterranean in all the areas under study and of North Africans, especially in central and southern Iberia. Germanic (Buri, Suebi, Vandals & Visigoths) and Sarmatian (Alans) took over political control beginning in the 5th century, and although we identify individuals with Germanic-associated ancestry at sites with Germanic-style ornaments and observe that such individuals were closely related across large distances as in the case of two siblings separated by 700 km, for Iberia as a whole, we observe high continuity with the previous Hispano-Roman population. The demographic patterns in Iberia contrast sharply with those in Britain, which showed the opposite pattern of little change in the Roman period followed by great change in the Migration period, and also from demographic patterns in the central Mediterranean where both periods were associated with profound transformation, raising broader questions about the forces that precipitated change over this time.


Pervasive findings of directional selection realize the promise of ancient DNA to elucidate human adaptation

September 2024

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176 Reads

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1 Citation

We present a method for detecting evidence of natural selection in ancient DNA time-series data that leverages an opportunity not utilized in previous scans: testing for a consistent trend in allele frequency change over time. By applying this to 8433 West Eurasians who lived over the past 14000 years and 6510 contemporary people, we find an order of magnitude more genome-wide significant signals than previous studies: 347 independent loci with >99% probability of selection. Previous work showed that classic hard sweeps driving advantageous mutations to fixation have been rare over the broad span of human evolution, but in the last ten millennia, many hundreds of alleles have been affected by strong directional selection. Discoveries include an increase from ∼0% to ∼20% in 4000 years for the major risk factor for celiac disease at HLA-DQB1 ; a rise from ∼0% to ∼8% in 6000 years of blood type B; and fluctuating selection at the TYK2 tuberculosis risk allele rising from ∼2% to ∼9% from ∼5500 to ∼3000 years ago before dropping to ∼3%. We identify instances of coordinated selection on alleles affecting the same trait, with the polygenic score today predictive of body fat percentage decreasing by around a standard deviation over ten millennia, consistent with the “Thrifty Gene” hypothesis that a genetic predisposition to store energy during food scarcity became disadvantageous after farming. We also identify selection for combinations of alleles that are today associated with lighter skin color, lower risk for schizophrenia and bipolar disease, slower health decline, and increased measures related to cognitive performance (scores on intelligence tests, household income, and years of schooling). These traits are measured in modern industrialized societies, so what phenotypes were adaptive in the past is unclear. We estimate selection coefficients at 9.9 million variants, enabling study of how Darwinian forces couple to allelic effects and shape the genetic architecture of complex traits.


a. Map of the Adriatic Sea, the Apennine Peninsula's eastern part, and the Balkan Peninsula's central part. The location of the island of Hvar is marked with a yellow sign. b. A closeup of the town of Hvar, the location of the excavation site (Radošević palace) is marked in red. The graphic is adapted from Visković (2021, Fig. 1). c. A closeup of the excavated trenches from which the studied individuals were excavated. The graphic is adapted from Visković (2021, Fig. 2) d. Grave 12’s selection of grave goods: All grave goods are dated from the middle of the 4th century CE to the beginning of the 6th century CE. The graphic and the description is adapted from Visković (2021, Fig. 42)
Principal component analysis (PCA) projecting the newly reported individuals from Hvar on top of the modern Eurasian population and ancient ancestral populations for reference. The figure also displays the four genetic groups (families) and the sex of the individuals
Principal component analysis (PCA) projecting the newly reported individuals from Hvar on top of the modern Eurasian population and ancient ancestral populations for reference. We included the other published contemporary individuals and projected them next to the Hvar individuals. Some modern Eurasian populations are noted on the Figure for orientation
Stable carbon (δ¹³C) and nitrogen (δ¹⁵N) isotope ratio results from bone collagen from the Hvar Radošević site. The results also show the age group, sex, and familial distribution
Stable carbon (δ¹³C) and nitrogen (δ¹⁵N) isotope ratio results for bone collagen from the Hvar Radošević site (n = 15). The 90% prediction ellipses using the SIBER package were modelled, including adult individuals from both Hvar – Radošević (n = 6) and other contemporary sites. Data for replication of the δ¹³C and δ¹⁵N values was available in their original publications (Lightfoot et al. 2012; Čaušević-Bully et al. 2024)
Bioarchaeological Perspectives on Late Antiquity in Dalmatia: Paleogenetic, Dietary, and Population Studies of the Hvar—Radošević burial site

August 2024

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173 Reads

Late Antiquity Dalmatia was a time and place of political unrest in the Roman Empire that influenced the lives of those in that region. The Late Antique burial site of Hvar – Radošević, spanning the 3rd to 5th centuries CE, is located on the Croatian Dalmatian island of Hvar. Given the time frame and location on a busy marine trade route, the study of this burial site offers us a glimpse into the lives of the Late Antique population living on this island. It comprises 33 individuals, with 17 buried within a confined grave tomb and the remaining individuals buried in separate locations in the tomb's proximity. The study aims to provide a new perspective on the lives of people on the island during those times by studying ancestry, population structure, possible differences within the buried population, dietary habits, and general health. The genetic analysis of the ancestral origins of the individuals buried at Hvar – Radošević revealed a diverse population reflective of the era's genetic variability. The identification of genetic outliers suggests a range of ancestries from distinct regions of the Roman Empire, possibly linked to trade routes associated with the Late Antique port in ancient Hvar. Stable isotope ratio analysis (δ¹³C and δ¹⁵N) indicated a diet mainly consisting of C3 plants, with minimal consumption of marine foods. High childhood mortality rates, physiological stress markers, and dental diseases suggest a low quality of life in the population. Assessment of kinship and dietary patterns revealed no discernible distinctions between individuals buried within the tomb and those buried outside, indicative of an absence of differential burial practices based on social status and familial ties among this specific buried population.


High levels of consanguinity in a child from Paquimé, Chihuahua, Mexico

August 2024

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80 Reads

Antiquity

Paquimé (also known as Casas Grandes), situated in northern Chihuahua between Mesoamerican and Ancestral Puebloan groups, was a vibrant multicultural centre during the thirteenth and fourteenth centuries AD. Substantial debate surrounds the social organisation of Paquimé's inhabitants. Here, the authors report on the analysis of ancient DNA from a unique child burial beneath a central support post of a room in the House of the Well. They argue that the close genetic relationship of the child's parents, revealed through this analysis, and the special depositional context of the burial reflect one family's attempts to consolidate and legitimise their social standing in this ancient community.


Long shared haplotypes identify the Southern Urals as a primary source for the 10th century Hungarians

July 2024

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280 Reads

During the Hungarian Conquest in the 10th century CE, the early medieval Magyars, a group of mounted warriors from Eastern Europe, settled in the Carpathian Basin. They likely introduced the Hungarian language to this new settlement area, during an event documented by both written sources and archaeological evidence. Previous archaeogenetic research identified the newcomers as migrants from the Eurasian steppe. However, genome-wide ancient DNA from putative source populations has not been available to test alternative theories of their precise source. We generated genome-wide ancient DNA data for 131 individuals from candidate archaeological contexts in the Circum-Uralic region in present-day Russia. Our results tightly link the Magyars to people of the Early Medieval Karayakupovo archaeological horizon on both the European and Asian sides of the southern Urals. Our analyes show that ancestors of the people of the Karayakupovo archaeological horizon were established in the Southern Urals by the Iron Age and that their descendants persisted locally in the Volga-Kama region until at least the 14th century.



Charting a landmark-driven path forward for population genetics and ancient DNA research in Africa

July 2024

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194 Reads

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2 Citations

The American Journal of Human Genetics

Population history-focused DNA and ancient DNA (aDNA) research in Africa has dramatically increased in the past decade, enabling increasingly fine-scale investigations into the continent’s past. However, while international interest in human genomics research in Africa grows, major structural barriers limit the ability of African scholars to lead and engage in such research and impede local communities from partnering with researchers and benefitting from research outcomes. Because conversations about research on African people and their past are often held outside Africa and exclude African voices, an important step for African DNA and aDNA research is moving these conversations to the continent. In May 2023 we held the DNAirobi workshop in Nairobi, Kenya and here we synthesize what emerged most prominently in our discussions. We propose an ideal vision for population history-focused DNA and aDNA research in Africa in ten years’ time and acknowledge that to realize this future, we need to chart a path connecting a series of “landmarks” that represent points of consensus in our discussions. These include effective communication across multiple audiences, reframed relationships and capacity building, and action toward structural changes that support science and beyond. We concluded there is no single path to creating an equitable and self-sustaining research ecosystem, but rather many possible routes linking these landmarks. Here we share our diverse perspectives as geneticists, anthropologists, archaeologists, museum curators, and educators to articulate challenges and opportunities for African DNA and aDNA research and share an initial map toward a more inclusive and equitable future.


Citations (68)


... We acknowledge that the admixture event could have occurred earlier, which would align well with our estimated dates (inferred by ALDER and DATES) and recent studies on the demographic history in the adjacent Caucasus region. 83 Interestingly, archaeological evidence indicates that Middle and Late Bronze Age periods in the Armenian highlands were marked by significant transformations. 10 The Middle Bronze Age saw the emergence of diverse cultures, a predominant nomadic lifestyle, and active relations with Anatolia and the Aegean. ...

Reference:

Demographic history and genetic variation of the Armenian population
The Genetic History of the South Caucasus from the Bronze to the Early Middle Ages: 5000 years of genetic continuity despite high mobility

... The genetic data were gathered from the following publications: Kılınç et al. (2016); Koptekin (2022); Koptekin et al. (2023;; Lazaridis et al. (2016;; Marchi et al. (2022); Mathieson et al. (2015;; Mattila et al. (2022); Narasimhan et al. (2019); Nikitin et al. (2024); Posth et al. (2023); Siska (2018); Skourtanioti et al. (2020); Wang et al. (2019;2023); Yaka et al. (2021). The information concerning the individuals from the Caucasus and those from neighbouring regions of the same periods is summarised in two tables, one presenting the characteristics (context, C14 dates, sex, mtDNA and Y haplogroups, references) of each of the individuals analysed (Supplementary Data 1), the other presenting the different names of the genetic groups to which these individuals are assigned (Supplementary Data 2). ...

A genomic history of the North Pontic Region from the Neolithic to the Bronze Age

... • to the east, at Hajji Firuz in the Lake Urmia basin, the Iran_N/CHG gene pool varies from 41% to 67%, the population also having Anatolian farmer-related ancestry, which was not present in the earlier herders of the western Zagros . • to the north, in the Pontic-Caspian steppe, around the middle of the 8th millennium BP (6th millennium BCE), some individuals derived their ancestry from Iran_N/CHG, in proportions ranging from 7.4% at Deriivka-I and Yasinovatka in the Dniepr valley (Mattila et al., 2022) to 18-24% at Golubaya Krinitsa in the Middle Don region (Allentoft et al., 2024;Lazaridis et al., 2024) (Table 3). These results thus would suggest genetic contact between populations from the Caucasus and the steppe region as early as 7.3 ka cal BP or 5300 cal BCE (Allentoft et al., 2024). ...

The Genetic Origin of the Indo-Europeans

... The earliest R1a sample (Takhirbai 382) from present-day Turkmenistan was found at Takhirbai-Depe, a Bronze Age settlement in the BMAC (916-796 BCE) [24]. Supplementary Table S7 provides high-resolution Y-chromosome haplogroups for previously studied Turkmen [20] and identifies their genetic affinities with the closest modern samples from public genealogical projects (FamilyTreeDNA) and ancient samples from academic studies [25][26][27][28][29][30][31][32][33][34][35][36][37], integrated within FamilyTreeDNA's Discovery phylogenetic tree. The second haplogroup exhibiting a strong founder effect (lineage expansion) is R1a ( Figure 5B), marked by high accumulation (46%) among Turkmen populations in Russia. ...

The Allen Ancient DNA Resource (AADR) a curated compendium of ancient human genomes

Scientific Data

... However, both processes not only lead to a decrease in N e but also affect the underlying gene genealogy, which mimics the genealogy of an expanding population and skews the SFS (Kim 2006;Nicolaisen and Desai 2013), and this is not accounted for by Boitard et al. (2022). Similarly, while Cousins et al. (2024) have recently implemented a PSMC method that accounts for the relative decrease in N e across the genome caused by the linked effects of selection, such a method is unlikely to account for impacts of selection on local genealogies and thus may be ineffective when selection is pervasive, especially in species with compact genomes or those with little/no recombination. A final caveat of our analysis is the assumption of panmixia that may not reflect the reliability of ARG-based inference in the presence of population structure, which Boitard et al. (2022) showed could overshadow the impact of linked effects of selection on the IICR. ...

Accurate inference of population history in the presence of background selection

... We identified IBD genomic segments of at least 8 centimorgans (cM) in length using the ancIBD software 39 with optimizations described in the Methods section. IBD connection networks were visualized as graphs using the Fruchterman-Reingold (FR) weight-directed algorithm 40 . ...

Accurate detection of identity-by-descent segments in human ancient DNA

Nature Genetics

... In addition, the region experienced increased international connectivity and trade routes across the Empire and the Mediterranean, fostering migrations from diverse corners of the Empire (Cascio 2007;Broodbank 2015). Recent paleogenetic studies (Antonio et al. 2019(Antonio et al. , 2024Reitsema et al. 2022;Skourtanioti et al. 2023;Moots et al. 2023;Olalde et al. 2023) have uncovered evidence of large-scale migrations without population replacement throughout the Mediterranean during this period. The influx of individuals with diverse genetic backgrounds occurred during increased trade and military expansion, attested by archaeological and historical data. ...

A Genetic History of the Balkans from Roman Frontier to Slavic Migrations
  • Citing Article
  • December 2023

Cell

... We then used HapNe-IBD to infer the demographic sizes of the populations based on the remaining IBD-sharing segments. 61 LD decay was calculated using PLINK with -r2 option, 70 kb sliding window, and no limit for r2. SNP pairs were sorted in 70-kb bins based on the distance between pairs, and mean values were calculated for each bin. ...

Haplotype-based inference of recent effective population size in modern and ancient DNA samples

... and 170 previously published modern individuals (including Chane, Huichol, Karitiana, Zapotec, Mixe, Mixtec, Piapoco, O'odham, Quechua, Surui, European and Mbuti;Table S6). We conducted population-level analyses (Principal Components Analysis (PCA)(Patterson et al. 2006), ADMIXTURE(Alexander et al. 2009) and outgroup f 3 statistics(Patterson et al. 2012)) to examine burial 23-8's ancestry and if it was significantly different from that of other previously published individuals.PCA(Figure 3b& c) demonstrates that burial 23-8 and other previously published ancient individuals from the Northwest/Southwest(Villa-Islas et al. 2023;Nakatsuka et al. 2023) are shifted towards modern-day O'odham (Pima) ancestry (modern O'odham people are Uto-Aztecan speakers and maize farmers whose homeland traditionally stretched across the modern Mexico-US border). The O'odham were one of the groups the Spanish encountered during their conquest of the Northwest/Southwest beginning in the midsixteenth century and still reside in the region today. ...

Genetic continuity and change among the Indigenous peoples of California

Nature

... Within Finland, the highest frequencies of N1a1 are observed in the eastern regions of the country [7,9]. This aligns with the postulated Siberian origin of the haplogroup [11,12]. Alongside N1a1, a notable proportion of Finnish Y chromosomes belongs to haplogroup I1a, carried in total by 28% of men [7]. ...

Postglacial genomes from foragers across Northern Eurasia reveal prehistoric mobility associated with the spread of the Uralic and Yeniseian languages