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A distinctive population with high hunter-gatherer ancestry persisted 3,000 years later than in most European regions, contributing to later Lower Rhine–Meuse Bell Beaker users.

Ancient human DNA from Grotta della Monaca in reveals ancestry patterns, kinship-based burial practices, and evidence of a parent-offspring union in Bronze Age southern Italy.

A previously unsampled deep lineage in central Argentina was discovered that had distinctive genetic drift by 8,500 bp and persisted as the main Native American ancestry component in the region up to the present day.

Levantine Phoenicians made little genetic contribution to Punic settlements in the central and western Mediterranean between the sixth and second centuries bce; instead, the Punic people derived most of their ancestry from a genetic profile similar to that of Sicily and the Aegean, with notable contributions from North Africa as well.

This flagship study from the European Solve-Rare Diseases Consortium presents a diagnostic framework including bioinformatic analysis of clinical, pedigree and genomic data coupled with expert panel review, leading to 500 new diagnoses in a cohort of 6,000 families with suspected rare diseases.

Genome-wide sequencing of 180 ancient individuals shows a continuous gradient of ancestry in Early-to-Mid-Holocene hunter-gatherers from the Baltic to the Transbaikal region and distinct contemporaneous groups in Northeast Siberia, and provides insights into the origins of modern Uralic and Yeniseian speakers.

Oakhurst rockshelter in South Africa documents marked cultural change during the Holocene, but genome-wide data from ancient human individuals at the site now demonstrate a remarkable degree of genetic continuity over the last 9,000 years: the contemporary ‡Khomani San and Karretjiemense from South Africa still show direct signs of relatedness to the Oakhurst hunter-gatherers.

The authors sequence genome-wide data from multiple human individuals in southern Spain and find long-lasting genetic continuity. Here, in contrast to regions elsewhere in Europe, a 23,000-year-old individual from Malalmuerzo carries genetic ancestry that connects earlier Aurignacian-associated individuals with western European hunter-gatherers long after the Last Glacial Maximum.

Whole-genome sequencing analysis of 81 prehistoric individuals reveals how the genetic makeup of people from the North Pontic region was influenced by waves of migration during the Eneolithic period and Early Bronze Age.

Ancient genome-wide data of 722 individuals and interdisciplinary analysis of large seventh- to eighth-century ce neighbouring cemeteries near Vienna are used to address the impact of the encounter between Eastern Asian Avars and Europeans.

Ancient DNA reveals how the explosive expansion of Yamnaya steppe pastoralists began with a small community north of the Black Sea speaking ancestral Indo-European, and detects genetic links with Anatolian speakers, stemming from a common Indo-Anatolian homeland in the North Caucasus–lower Volga region.

Examination of archaeological pottery residues and modern genes suggest that environmental conditions, subsistence economics and pathogen exposure may explain selection for lactase persistence better than prehistoric consumption of milk.

Gelabert et al. examine genomic and archaeological data from Europe’s earliest farming communities in Central Europe (5500–5000 bce). They find differentiated genetic networks but no evidence of unequal access to resources linked to sex or kin.

Ancient DNA from Soqotra, an island off the coast of Yemen, evidences a population history differing from other areas of the Arabian Peninsula and suggests there has not been complete population replacement throughout the region between the Pleistocene and Holocene.

Genome-wide ancient DNA data from individuals from the Middle Bronze Age to Iron Age documents large-scale movement of people from the European continent between 1300 and 800 bc that was probably responsible for spreading early Celtic languages to Britain.

Genome-wide analyses of ancient DNA from individuals from California and Mexico shed light on the spread of Mexican ancestry to California and how it correlates with linguistic flow.

Combined analysis of new genomic data from 116 ancient hunter-gatherer individuals together with previously published data provides insights into the genetic structure and demographic shifts of west Eurasian forager populations over a period of 30,000 years.

Archaeogenetic analysis of 135 individuals from the zone between southeastern Europe and the northwestern Black Sea region indicates contacts between farming and pastoralist populations at the end of the Copper Age.

For most ancient genomes, low sequencing depth restricts genotyping, limiting their study. Here, the authors test imputation performance of ancient human genomes by estimating error rates and potential bias introduced in downstream analyses.

Different functional variants in ADH1B (and elsewhere) in Europeans and Africans strongly affect risk for alcohol dependence. Dependence only partly genetically correlates with consumption, with strong correlations to other psychiatric disorders.

Genomic analysis of Plasmodium DNA from 36 ancient individuals provides insight into the global distribution and spread of malaria-causing species during around 5,500 years of human history.

Fire impacts soil organic carbon stocks, in addition to aboveground biomass, yet changes are not well constrained. This study shows that more soil carbon is lost from drier ecosystems than humid ones and that the carbon sink is increasing in savannah–grassland regions with declining burned area.

The neuron-specific RNA binding protein NOVA1 has a single amino acid substitution unique to modern humans. Here, the authors characterize the evolutional specificity and the function of the substitution. Studies using humanized NOVA1 mice reveal its specific effects on splicing and vocalization.

This report from the 1000 Genomes Project describes the genomes of 1,092 individuals from 14 human populations, providing a resource for common and low-frequency variant analysis in individuals from diverse populations; hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites, can be found in each individual.

Analysis of more than 150 Phase 3 oncology clinical trials supports parametric statistical analysis, significantly increasing the precision of small early-phase trials and relating deviations from the Cox proportional hazards model to trial duration.

The open-circuit-voltage deficit of cadmium selenide telluride solar cells is typically higher than that of other photovoltaic technologies yet the reasons are unclear. Now, Onno et al. use photoluminescence techniques to break down the contributions of dopants and back contacts to voltage losses.

Using tree community data from 29 tropical and temperate sites that have experienced multi-decadal alterations in fire frequency, the authors show repeated burning generally reduces stem density and basal area, with most pronounced effects in savanna ecosystems and in sites with strong wet seasons or strong dry seasons.

Gerard Schellenberg and colleagues report a genome-wide association study of late-onset Alzheimer's disease (LOAD), as part of the Alzheimer Disease Genetics Consortium. They identify common variants in MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 associated with LOAD.

Swapan Nath, Sang-Cheol Bae and colleagues report the results of a large-scale association study of systemic lupus erythematosus in individuals of Asian ancestry. They identify several new susceptibility loci and find enrichment for signals near genes implicated in B cell and T cell function.

Analysing changes in grasslands and savannahs following agricultural abandonment, the authors show that even after more than 90 years, plant diversity and productivity recovered by only 73% and 53%, respectively.

Rising CO₂ levels have been thought to potentially increase plant growth due to improved fertilization, but such a general effect is spatially and temporally affected by precipitation. Grassland experiments show constraints and increases in the fertilization effect due to seasonal-based precipitation, inferring that any potential plant growth could be mitigated by natural rainfall changes.

Isolating the relationships between biodiversity and ecosystem functioning in natural ecosystems is challenging. Here, the authors apply a causal inference approach to observational data from grasslands and find a negative effect of biodiversity on productivity driven by non-native and rare species.

The burial community at Gurgy ‘les Noisats’ (France) was genetically connected by two main pedigrees, spanning seven generations, that were patrilocal and patrilineal, with evidence for female exogamy and exchange with genetically close neighbouring groups.

1000 Genomes imputation can increase the power of genome-wide association studies to detect genetic variants associated with human traits and diseases. Here, the authors develop a method to integrate and analyse low-coverage sequence data and SNP array data, and show that it improves imputation performance.

The Scythian culture was widespread throughout the Eurasian Steppe during the 1^stmillennium BCE. This study provides genetic evidence for two independent origins for the Scythians in the eastern and western steppe with varying proportions of Yamnaya and East Asian ancestry, and gene flow among them.

A meta-analysis and field data show that frequent fires in savannas and broadleaf forests decrease soil carbon and nitrogen over many decades; modelling shows that nitrogen loss drives carbon loss by reducing net primary productivity.

Adam Siepel and colleagues estimate key parameters for ancient human demography using a Bayesian analysis of the whole-genome sequences of six individuals from diverse populations. They present new methods for coalescent-based inference of demographic parameters as well as a custom pipeline for genotype inference.

Christopher Haiman and colleagues report a genome-wide association study for prostate cancer in African-American males drawn from 11 epidemiological studies of prostate cancer, with replication including individuals of African ancestry from 10 additional studies worldwide. They identify a new susceptibility locus on chromosome 17q21, for which the risk allele shows a higher frequency in men of African ancestry than in other populations. This may explain some of the increased incidence of prostate cancer in men of African ancestry.

Circular extrachromosomal DNA in high-risk medulloblastoma contributes to tumor heterogeneity and associates with relapse and survival. Enhancer rewiring events involving known oncogenes are frequent events, affecting transcription and proliferation.

The Structural Variation Analysis Group of The 1000 Genomes Project reports an integrated structural variation map based on discovery and genotyping of eight major structural variation classes in 2,504 unrelated individuals from across 26 populations; structural variation is compared within and between populations and its functional impact is quantified.

One way of discovering genes with key roles in cancer development is to identify genomic regions that are frequently altered in human cancers. Here, high-resolution analyses of somatic copy-number alterations (SCNAs) in numerous cancer specimens provide an overview of regions of focal SCNA that are altered at significant frequency across several cancer types. An oncogenic function is also found for the anti-apoptosis genes MCL1 and BCL2L1, which reside in amplified genome regions in many cancers.

In ancient cultures without a writing system, it is difficult to infer the basis of status and rank. Here the authors analyse ancient DNA from nine presumed elite individuals buried successively over a 300-year period at Chaco Canyon, and show evidence of matrilineal relationships.

Alon Keinan and colleagues estimate the ratio of genetic diversity on the X chromosome to that on the autosome (X/A) on the basis of whole-genome sequencing of 69 females from the 1000 Genomes Project. They find that across populations, the X/A ratio increases with genetic distance from genes. They further find that this ratio is reduced in Europeans compared to West Africans, which may be explained by demographic history.

The Cancer Cell Line Encyclopedia presents the first results from a large-scale screen of some 947 cancer cell lines with 24 anticancer drugs, with the aim of identifying specific genomic alterations and gene expression profiles associated with selective sensitivity or resistance to potential therapeutic agents.