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Investigative leads are not generated by traditional forensic DNA testing, if the source of the forensic evidence or a 1st degree relative of unidentified human remains is not in the DNA database. In such cases, forensic genetic genealogy (FGG) can provide valuable leads. However, FGG generated genetic data contain private and sensitive information. Therefore, it is essential to deploy approaches that minimize unnecessary disclosure of these data to mitigate potential risks to individual privacy. We recommend protective practices that need not impact effective reporting of relationship identifications. Examples include performing one-to-one comparisons of DNA profiles of third-party samples and evidence samples offline with an “air gap” to the internet and shielding the specific shared single nucleotide polymorphisms (SNP) states and locations by binning adjacent SNPs in forensic reports. Such approaches reduce risk of unwanted access to or reverse engineering of third-party individuals’ genetic data and can give these donors greater confidence to support use of their DNA profiles in FGG investigation.

Autopsies afford simultaneous access to all tissues and body compartments. The unique opportunity for extensive sampling during autopsy enables several research questions to be addressed. Early in the COVID-19 pandemic, [...]

We assessed the distribution of SARS-CoV-2 at autopsy in 22 deceased persons with confirmed COVID-19. SARS-CoV-2 was found by PCR (2/22, 9.1%) and by culture (1/22, 4.5%) in skull sawdust, suggesting that live virus is present in tissues postmortem, including bone. Occupational exposure risk is low with appropriate personal protective equipment.

Northeastern Siberia has been inhabited by humans for more than 40,000 years but its deep population history remains poorly understood. Here we investigate the late Pleistocene population history of northeastern Siberia through analyses of 34 newly recovered ancient genomes that date to between 31,000 and 600 years ago. We document complex population dynamics during this period, including at least three major migration events: an initial peopling by a previously unknown Palaeolithic population of 'Ancient North Siberians' who are distantly related to early West Eurasian hunter-gatherers; the arrival of East Asian-related peoples, which gave rise to 'Ancient Palaeo-Siberians' who are closely related to contemporary communities from far-northeastern Siberia (such as the Koryaks), as well as Native Americans; and a Holocene migration of other East Asian-related peoples, who we name 'Neo-Siberians', and from whom many contemporary Siberians are descended. Each of these population expansions largely replaced the earlier inhabitants, and ultimately generated the mosaic genetic make-up of contemporary peoples who inhabit a vast area across northern Eurasia and the Americas.

Background: The number of aircraft-assisted suicides can only be considered a rough estimate because it is difficult and, at times, impossible to identify all cases of suicide. Methods: Four recent reports of accidents occurring in 1997 in Indonesia, 1999 in Massachusetts in the United States, 2013 in Namibia, and 2015 in France related to commercial aircraft-assisted suicides were analyzed. This analysis relied on data extracted from the accident reports that supported aircraft-assisted suicide from the: (a) cockpit voice recorder (CVR) and flight data recorder (FDR), (b) medical history, (c) psychosocial history, (d) toxicology, (e) autopsy, and (f) any methodology that utilized aviation medicine. There are some limitations in this study. Although all analyzed accident investigations followed ICAO Annex 13 guidelines, there is variability in their accident investigations and reporting. In addition, accident investigation reports represent accidents from 1997 to 2015, and during this time, there has been a change in the way accidents are reported. The nature of this analysis is explorative. The aim was to identify how the various aircraft accident investigators concluded that the accidents were due to suicidal acts. Results: In all four accident reports, FDR data were available. CVR data were also available, except for one accident where CVR data were only partially available. Comprehensive medical and psychosocial histories were available in only one of four of the accident reports. Conclusion: To prevent accidents involving commercial aircraft, it is necessary to identify the causes of these accidents to be able to provide meaningful safety recommendations. A detailed psychological autopsy of pilots can and likely will assist in investigations, as well as generate recommendations that will substantially contribute to mitigating accidents due to pilot suicide. Airborne image recording may be a useful tool to provide additional information about events leading up to a crash and thus assist in accident investigations.

Here we report the Simons Genome Diversity Project data set: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs that are not present in the human reference genome. Our analysis reveals key features of the landscape of human genome variation, including that the rate of accumulation of mutations has accelerated by about 5% in non-Africans compared to Africans since divergence. We show that the ancestors of some pairs of present-day human populations were substantially separated by 100,000 years ago, well before the archaeologically attested onset of behavioural modernity. We also demonstrate that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans.

In order to explore the diversity and selective signatures of duplication and deletion human copy-number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single-nucleotide-variant base pairs is greater among non-Africans than it is among African populations, but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.

In order to explore the diversity and selective signatures of duplication and deletion human copy-number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single-nucleotide-variant base pairs is greater among non-Africans than it is among African populations, but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.

Background: The reduction of child and adolescent deaths (defined as decedents aged 0–19 years) remains a crucial public health priority also in high-income countries such as Finland. There is evidence of a relationship between socioeconomic gradients and child mortality, but the association is considered complex and relatively poorly understood. Exploiting a Finnish dataset with nationwide coverage, the present study aimed to shed light on the sociodemographic predictors of child and adolescent mortality at the municipality level.Methods: A public database of Statistics Finland was queried for municipality-level data on sociodemographic traits and child and adolescent deaths in Finland during the years 2011–2018. The sociodemographic indicators included total population size, child and adolescent population size, sex distribution, mean age, education, unemployment, median income, population density, rurality, percentage of individuals living in their birth municipality, household size, overcrowded households, foreign language speakers, divorce rate, car ownership rate, and crime rate. The sociodemographic indicators were modeled against child and adolescent mortality by means of generalized estimating equations.Results: A total of 2,371 child and adolescent deaths occurred during the 8-year study period, yielding an average annual mortality rate of 26.7 per 100,000 individuals. Despite a fluctuating trend, the average annual decline in child and adolescent deaths was estimated to be 3% (95% confidence interval 1–5%). Of the sociodemographic indicators, population density was associated with higher child and adolescent mortality (rate ratio 1.03, 95% confidence interval 1.01–1.06), whereas the percentage of foreign language speakers was associated with lower child and adolescent mortality (0.96, 0.93–0.99).Conclusion: Densely populated areas should be the primary focus of efforts to reduce child and adolescent mortality. Of note is also the apparently protective effect of foreign language speakers for premature mortality. Future studies are welcomed to scrutinize the mediating pathways and individual-level factors behind the associations detected in this study.

Military pilots undergo rigorous selection compared with civilian professional pilots because of different operational requirements. There are no studies of military pilots’ subsequent civil aviation careers and fatal pilot aviation accidents. This study focuses on Vietnam War (VW) pilots and subsequent fatal aviation accidents in the U.S from 1965 to 2018. In total nine aviation accidents met the inclusion criteria and are described in detail, including the pilots’ previous civil aviation incidents. The VW pilots were healthy, had valid Medicals and continued to fly in demanding pilot positions after their military careers. Although the data are limited, this study suggests that previous military pilots may differ slightly from other pilots in their subsequent civil aviation careers.

Despite the increased frequency and scale of wildfire-related catastrophes, there has been little or no effective and coordinated international policy to address their highly negative impact. Possibly a generalized approach to respond to such major events could be modeled on existing international safety investigation policies and agreements that already have proved successful. The International Civil Aviation Organization (ICAO) outlines safety investigations after international fatal aviation accidents. Although this well-established safety investigation protocol cannot be directly applied in acute wildfire-related accidents, it can offer a useful framework for establishing international guidelines to reduce risk of future wildfire catastrophes. The co-operation between safety investigation authorities has been shown to be fruitful especially for those less developed countries that have limited resources and experience related to accident investigations. While primarily an adaptive measure that can set practices to reduce vulnerability and fragility of ecosystems and human societies, the same policies could be seen as a climate change mitigation measure, as wildfires can contribute significantly to global CO2 emissions. Finally, the concept of independent and qualified safety investigations represents the principle of serendipity: disclosing by accident something that has not been foreseen. Feedback from reality compensates assumptions and limitations of feedforward analysis of complex systems that can only reveal their dynamics and performance in reality and over time.

The long-term impact of viruses residing in the human bone marrow (BM) remains unexplored. However, chronic inflammatory processes driven by single or multiple viruses could significantly alter hematopoiesis and immune function. We performed a systematic analysis of the DNAs of 38 viruses in the BM. We detected, by quantitative PCRs and next-generation sequencing, viral DNA in 88.9% of the samples, up to five viruses in one individual. Included were, among others, several herpesviruses, hepatitis B virus, Merkel cell polyomavirus and, unprecedentedly, human papillomavirus 31. Given the reactivation and/or oncogenic potential of these viruses, their repercussion on hematopoietic and malignant disorders calls for careful examination. Furthermore, the implications of persistent infections on the engraftment, regenerative capacity, and outcomes of bone marrow transplantation deserve in-depth evaluation.

Background: Most respiratory viruses show pronounced seasonality, but for SARS-CoV-2, this still needs to be documented.Methods: We examined the disease progression of COVID-19 in 6,914 patients admitted to hospitals in Europe and China. In addition, we evaluated progress of disease symptoms in 37,187 individuals reporting symptoms into the COVID Symptom Study application.Findings: Meta-analysis of the mortality risk in seven European hospitals estimated odds ratios per 1-day increase in the admission date to be 0.981 (0.973–0.988, p < 0.001) and per increase in ambient temperature of 1°C to be 0.854 (0.773–0.944, p = 0.007). Statistically significant decreases of comparable magnitude in median hospital stay, probability of transfer to the intensive care unit, and need for mechanical ventilation were also observed in most, but not all hospitals. The analysis of individually reported symptoms of 37,187 individuals in the UK also showed the decrease in symptom duration and disease severity with time.Interpretation: Severity of COVID-19 in Europe decreased significantly between March and May and the seasonality of COVID-19 is the most likely explanation.

Levänluhta is a unique archaeological site with the remains of nearly a hundred Iron Age individuals found from a water burial in Ostrobothnia, Finland. The strongest climatic downturn of the Common Era, resembling the great Fimbulvinter in Norse mythology, hit these people during the 6th century AD. This study establishes chronological, dietary, and livelihood synthesis on this population based on stable carbon and nitrogen isotopic and radiocarbon analyses on human remains, supported by multidisciplinary evidence. Extraordinarily broad stable isotopic distribution is observed, indicating three subgroups with distinct dietary habits spanning four centuries. This emphasizes the versatile livelihoods practiced at this boundary of marine, freshwater, and terrestrial ecosystems. While the impact of the prolonged cold darkness of the 6th century was devastating for European communities relying on cultivation, the broad range of livelihoods provided resilience for the Levänluhta people to overcome the abrupt climatic decline.

Many native populations in South America have been severely impacted by two relatively recent historical events, the Inca and the Spanish conquest. However decisive these disruptive events may have been, the populations and their gene pools have been shaped markedly also by the history prior to the conquests. This study focuses mainly on the Chachapoya peoples that inhabit the montane forests on the eastern slopes of the northern Peruvian Andes, but also includes three distinct neighboring populations (the Jívaro, the Huancas and the Cajamarca). By assessing mitochondrial, Y-chromosomal and autosomal diversity in the region, we explore questions that have emerged from archaeological and historical studies of the regional culture (s). These studies have shown, among others, that Chachapoyas was a crossroads for Coast-Andes-Amazon interactions since very early times. In this study, we examine the following questions: 1) was there pre-Hispanic genetic population substructure in the Chachapoyas sample? 2) did the Spanish conquest cause a more severe population decline on Chachapoyan males than on females? 3) can we detect different patterns of European gene flow in the Chachapoyas region? and, 4) did the demographic history in the Chachapoyas resemble the one from the Andean area? Despite cultural differences within the Chachapoyas region as shown by archaeological and ethnohistorical research, genetic markers show no significant evidence for past or current population substructure, although an Amazonian gene flow dynamic in the northern part of this territory is suggested. The data also indicates a bottleneck c. 25 generations ago that was more severe among males than females, as well as divergent population histories for populations in the Andean and Amazonian regions. In line with previous studies, we observe high genetic diversity in the Chachapoyas, despite the documented dramatic population declines. The diverse topography and great biodiversity of the northeastern Peruvian montane forests are potential contributing agents in shaping and maintaining the high genetic diversity in the Chachapoyas region.

Formalin fixation, albeit an outstanding method for morphological and molecular preservation, induces DNA damage and cross-linking, which can hinder nucleic acid screening. This is of particular concern in the detection of low-abundance targets, such as persistent DNA viruses. In the present study, we evaluated the analytical sensitivity of viral detection in lung, liver, and kidney specimens from four deceased individuals. The samples were either frozen or incubated in formalin (±paraffin embedding) for up to 10 days. We tested two DNA extraction protocols for the control of efficient yields and viral detections. We used short-amplicon qPCRs (63–159 nucleotides) to detect 11 DNA viruses, as well as hybridization capture of these plus 27 additional ones, followed by deep sequencing. We observed marginally higher ratios of amplifiable DNA and scantly higher viral genoprevalences in the samples extracted with the FFPE dedicated protocol. Based on the findings in the frozen samples, most viruses were detected regardless of the extended fixation times. False-negative calls, particularly by qPCR, correlated with low levels of viral DNA (150 base pairs). Our data suggest that low-copy viral DNAs can be satisfactorily investigated from FFPE specimens, and encourages further examination of historical materials.

Populations from North-eastern Europe, in particular those speaking Uralic languages, carry additional ancestry in similarity with modern East Asian populations. Here, the authors analyse ancient genomic data from 11 individuals from Finland and Northwest Russia, and identify genomic signals of migrations from Siberia that began at least 3500 years ago.

Abstract In Europe, modern mitochondrial diversity is relatively homogeneous and suggests an ubiquitous rapid population growth since the Neolithic revolution. Similar patterns also have been observed in mitochondrial control region data in Finland, which contrasts with the distinctive autosomal and Y-chromosomal diversity among Finns. A different picture emerges from the 843 whole mitochondrial genomes from modern Finns analyzed here. Up to one third of the subhaplogroups can be considered as Finn-characteristic, i.e. rather common in Finland but virtually absent or rare elsewhere in Europe. Bayesian phylogenetic analyses suggest that most of these attributed Finnish lineages date back to around 3,000–5,000 years, coinciding with the arrival of Corded Ware culture and agriculture into Finland. Bayesian estimation of past effective population sizes reveals two differing demographic histories: 1) the ‘local’ Finnish mtDNA haplotypes yielding small and dwindling size estimates for most of the past; and 2) the ‘immigrant’ haplotypes showing growth typical of most European populations. The results based on the local diversity are more in line with that known about Finns from other studies, e.g., Y-chromosome analyses and archaeology findings. The mitochondrial gene pool thus may contain signals of local population history that cannot be readily deduced from the total diversity.