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The silver deposits located in the upper basin of the Felent Stream are currently the largest producing mine in the Türkiye. It is also significantly impacted by industrial, agricultural, and thermal spring-related waste in Kütahya Province. The main objectives of this study were to examine the spatiotemporal variations of 12 dissolved potentially toxic elements (PTEs) in the surface water of Felent Stream, to identify their possible sources, and to assess their probable risks. As a result of this study, among investigated PTEs, the highest mean concentrations of 3592-14,388 µg/L for Mg and the lowest of 0.15-0.19 µg/L for Cd were noted in Felent Stream water. The average concentrations of PTEs were found in the order of Mg > Ca > Na > As > Mn > B > Zn > Ni > Cu > Pb > Cr > Cd. Remarkably, during the dry season, there was a conspicuous escalation in the average PTEs contents of water, with an approximately multifold amplification. PTEs in stream water were evaluated for their potential ecotoxicological risks and possible sources. Based on ecological risk assessment indices, the stream exhibited low pollution levels during the wet season but displayed elevated pollution levels during the dry season, indicating a general shift towards heightened pollution conditions. The hazard index (HI) data for As exhibited significant potential noncarcinogenic risks across all monitoring stations. Conversely, the carcinogenic risk (CR) data underscored the imperative nature of addressing the health risks associated with As in the waters of the studied region. Mining activities were identified as the primary origin of PTEs based on principal component analysis (PCA). Moreover, upstream regions, proximal to the mining site, emerged as the most heavily contaminated areas according to cluster analysis (CA)., (© 2024. The Author(s), under exclusive licence to Springer Nature Switzerland AG.)

Potentially toxic elements (PTEs), especially arsenic in drinking water, pose significant global health risks, including cancer. This study evaluates the groundwater quality in Giresun province on the Black Sea coast of Türkiye by analyzing twelve groundwater resources. The mean concentrations of macronutrients (mg/L) were: Ca (10.53 ± 6.63), Na (6.81 ± 3.47), Mg (3.39 ± 2.27), and K (2.05 ± 1.10). The mean levels of PTEs (µg/L) were: Al (40.02 ± 15.45), Fe (17.65 ± 14.35), Zn (5.63 ± 2.59), V (4.74 ± 5.85), Cu (1.57 ± 0.81), Mn (1.02 ± 0.76), As (0.93 ± 0.73), Cr (0.75 ± 0.57), Ni (0.41 ± 0.18), Pb (0.36 ± 0.23), and Cd (0.10 ± 0.05). All PTE levels complied with WHO drinking water safety guidelines, and overall water quality was excellent. The heavy metal evaluation index (HEI < 10) and heavy metal pollution index (HPI < 45) indicate low pollution levels across all stations. Irrigation water quality was largely adequate, as shown by the magnesium hazard (MH), sodium adsorption ratio (SAR), Na%, and Kelly's ratio (KR). The total hazard index (THI) values consistently remained below 1, indicating no non-carcinogenic health risks. However, at station 10 (city center), the cancer risk (CR) for adults due to arsenic was slightly above the threshold (1.44E-04). Using principal component analysis (PCA), positive matrix factorization (PMF), and geographic information system (GIS) mapping, the study determined that most PTEs originated from natural geological formations or a combination of natural and human sources, with minimal impact from human activities. These findings highlight the safety and reliability of the groundwater sources studied, emphasizing their potential as a long-term, safe water supply for nearby populations., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Water scarcity is a growing concern due to rapid urbanization and population growth. This study assesses spring water quality at 20 stations in Giresun province, Türkiye, focusing on potentially toxic elements and physicochemical parameters. The Water Quality Index rated most samples as "excellent" during the rainy season and "good" during the dry season, except at stations 4 (40° 35' 12″ North/38° 26' 34″ East) and 19 (40° 44' 28″ North/38° 06' 53″ West), indicating "poor" quality. Mean macro-element concentrations (mg/L) were: Ca (34.27), Na (10.36), Mg (8.26), and K (1.48). Mean trace element values (μg/L) were: Al (1093), Zn (110.54), Fe (67.45), Mn (23.03), Cu (9.79), As (3.75), Ni (3.00), Cr (2.84), Pb (2.70), Co (1.93), and Cd (0.76). Health risk assessments showed minimal non-carcinogenic risks, while carcinogenic risk from arsenic slightly exceeded safe limits (CR = 1.75E-04). Higher arsenic concentrations during the rainy season were due to increased recharge, arsenic-laden surface runoff, and human activities. Statistical analyses (PCA, PCC, HCA) suggested that metals and physico-chemical parameters originated from lithogenic, anthropogenic, or mixed sources. Regular monitoring of spring water is recommended to mitigate potential public health risks from waterborne contaminants., (© 2024. The Author(s).)

This study investigates potentially toxic elements (PTEs) in the surface sediments of the Abdal River system, a critical water source for Samsun province, Türkiye, due to the presence of the Çakmak Dam. PTE concentrations, measured in mg/kg, show significant variability: Hg (0.03) < Cd (0.26) < As (10.98) < Pb (13.88) < Cu (48.61) < Ni (62.45) < Zn (70.97) < Cr (96.28) < Mn (1015) < Fe (38357). Seasonal variations were observed, in particular increased concentrations of As, Cd and Pb in summer (p < 0.05). Contamination and ecological risk indices (mHQ, EF, I geo , CF, PLI, E r i , mCd, NPI, PERI, MPI, and TRI) indicate moderate to low levels of contamination, suggesting potential ecological effects. Health risk assessments suggest minimal risks to human health from sediment PTEs. Statistical analyses (PCC, PCA and HCA) improve the understanding of the sediment environment and contamination sources, while the coefficient of variation assists in source identification., Competing Interests: Declaration of competing interest The authors confirm that they have no disclosed competing financial interests or personal relationships that could have influenced the research presented in this paper., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

This study examines the levels and patterns of potentially toxic elements (PTEs) in surface sediment of Almus Dam Lake (ADL), a key fish breeding site in Türkiye. PTE concentrations in sediment were ranked: Hg (0.05 ± 0.01) < Cd (0.16 ± 0.01) < Pb (9.34 ± 1.42) < As (18.75 ± 15.65) < Cu (63.30 ± 15.17) < Ni (72.64 ± 20.54) < Zn (86.66 ± 11.95) < Cr (108.35 ± 36.40) < Mn (1008 ± 151) < Fe (53,998 ± 6468), with no significant seasonal or spatial differences. Ecological risk indices (mHQ, EF, I geo , CF, PLI, E r i , mCd, NPI, PERI, MPI, and TRI) showed low contamination levels. Health risk assessments, including LCR, HQ, and THI, indicated minimal risks to humans from sediment PTEs. Statistical analyses (PCA, HCA, SCC) identified natural, transportation, and anthropogenic PTE sources, with slight impacts from agriculture and fish farming. This research underlines contamination status of ADL and emphasizes the need for targeted management strategies, offering critical insights for environmental safeguarding., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Nitrosamines (NAs) are molecules that include the nitroso functional group. In 2018, the US Food and Drug Administration (FDA) received its first report of NAs in pharmaceuticals. The fact that NA impurities are likely human carcinogens is relevant to these compounds. Furthermore, prolonged exposure to NA contaminants above safe limits may raise the risk of cancer. The goal of this article was to assess the amounts of six different NAs in Sartan group medicines purchased from formal pharmacies in Istanbul, Türkiye, using a validated LC-MS/MS assay. An LC-MS/MS-based analytical assay was undertaken. The separation was performed with a HR ODS 150mm×3.0mm and 5-analytical columns, providing effective separation of major peaks from NA impurities. In mobile phase A, formic acid was 0.10% in water, while in mobile phase B, formic acid was 0.10% in methanol. The flow rate was 0.4mL/minute, and the total runtime was 18minutes with the gradient elution mode. The validation was conducted in line with ISO/IEC 17025 requirements. Up to 100μg/L, linearity was determined using correlation coefficients (r 2 >0.995) for all NAs. The limit of quantification values for all NAs analyses were below 1.0μg/L. The mean recovery value obtained during the spike experiment was 95.18%, demonstrating the accuracy of the procedure. In addition, the accuracy was shown by a certified reference analysis, which yielded relative standard deviation and relative error values of 1.82% and 3.34%, respectively. During the intermediate precision testing, bias and relative standard deviation were 0.96 and 2.87%, respectively. Of the 75 study samples involving Sartan group medical products, no nitrosamine impurities were detected, demonstrating that pharmaceutical companies have adequate medication safety precautions in place in accordance with FDA and European Medicines Agency (EMA) regulations published to prevent NA contaminants in human medicinal products., (Copyright © 2023 Académie Nationale de Pharmacie. All rights reserved.)

Potentially hazardous elements (PHEs) are non-biodegradable and accumulate in places like water, soil, and plants where they endanger environmental health. There are a considerable number of wetlands having both national and worldwide importance in Türkiye. Regarding PHE accumulation, sediments and Ceratophyllum demersum were examined in the Miliç Wetland (MW), situated in a basin with intense hazelnut and rice farming, which is next to the international highway on the Central Black Sea Coast of Türkiye. The quantification of PHEs in the study subjects was undertaken using a validated inductively coupled plasma-mass spectrometry (ICP-MS) method, and mean concentrations (mg/kg) of PHEs in the sediments were in the order of Al (13,133) > Fe (10,790) > Mn (205.84) > Cu (17.95) > Cr (16.40) > Zn (15.55) > Ni (11.74) > Pb (9.17) > Co (6.30) > As (2.07) > Cd (0.19). The ecotoxicological risk was assessed using sediment quality guidelines (SQGs) and certain geological indices, indicating mostly low ecological risk, low pollution, and no hazardous risk. Based on the modified hazard quotient (mHQ) classification of values, Ni showed low contamination, while Cd, Pb, As, and Cu displayed very low contamination, and Zn presented minor contamination. The findings of total lifetime cancer risk (LCR), hazard quotient (HQ), and hazard index (HI) identified that exposure of adults or children to sediments containing PHEs would not represent a major health risk. As a recommendation, it is necessary to avoid the direct entrance of agricultural pesticides and fertilizers to enhance the sediment quality of the MW. Since the highway was constructed close to MW, this is considered a significant source of human-caused pollution. Consequently, all PHEs analyzed, except for Cd, displayed a bioconcentration factor (BCF) value of more than 1000, indicating that Ceratophyllum demersum is a promising plant for phytoremediation in PHE-polluted ecological systems involving wetlands, and it can efficiently be employed as an indicator species in biological screening investigations., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

The objective of this paper was to stress the possible potential toxic element (PTE) accumulation in the surface sediments of the Çavuşlu Stream (ÇS), as well as examining the source identification of whether or not any association between garbage disposal facility (GDF) and ecotoxicity or human health risk in Giresun, Turkey. The sediment specimens were analyzed by inductively coupled plasma mass spectroscopy (ICP-MS) followed by microwave digestion. The descending order of metals (mg/kg) in sediments were as follows: Fe (38,791 ± 3269) > Al (27,753 ± 4051) > Mn (730.90 ± 114.60) > Cr (233.39 ± 53.32) > V (176.40 ± 19.66) > Cu (85.22 ± 6.06) > Ni (72.87 ± 11.50) > Zn (46.45 ± 3.68) > Co (21.96 ± 3.33) > Pb (12.17 ± 1.97) > As (3.12 ± 1.45) > Sb (0.22 ± 0.06) > Cd (0.17 ± 0.02) > Hg (0.04 ± 0.01). Among these elements, certain metals (V, Cr, Cu, and Ni) in the sediments were above the average shale. Cr and Ni levels were above their corresponding threshold effect level (TEL) and probable effect level (PEL) values while Cu concentration exceeding its TEL, indicating that benthic organisms in the sediment of ÇS have likely toxic responses. Based on the results from contamination factor (CF), enrichment factor (EF), and geo-accumulation factor (I geo ) values of PTEs, the sediment was frequently classified into moderate contamination, moderate enrichment, and unpolluted to moderately polluted group. Pollution load index (PLI), integrated pollution index (IPI), and ecological risk index (E r i ) indicated low pollution or low potential ecological risk. Toxicity risk index (TRI) and toxic unit analysis (TUs) suggested moderate toxicity. The outcomes of hazard quotient (HQ), total hazard index (THI), and lifetime cancer risk (LCR) stressed out that PTEs would not pose a significant health risk when adults are exposed to sediments in ÇS. However, a non-cancerogenic health risk for children was considered as the collective effect of 14 PTE (THI = 1.47 > 1). Multivariate statistical analysis (principal component analysis (PCA), Pearson's correlation coefficient (PCC), and hierarchical cluster analysis (HCA)) outlined that the metallic accumulation in the sediments of ÇS was related to lithological, geological, and anthropogenic impacts. Therefore, the GDF is likely a major reason in terms of anthropogenic pollution in the sediments of the ÇS., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Objective: Placenta is a temporary organ that connects the developing fetus and the mother. However, it cannot protect the embryo against chromium (Cr) and nickel (Ni) exposure. Quantification of Cr and Ni in biological and ecological subjects is challenging. Thus, the first goal of this study was to provide a validated Graphite Furnace Atomic Absorption Spectrometry (GFAAS) method to determine Cr and Ni in mother-newborn specimens. The second goal was to assess the reference Ni and Cr contents in cord blood, maternal blood, and placenta samples in a population from Ankara., Material and Methods: Biological samples were collected from 100 healthy mother-newborn pairs. Metal levels were quantified by GFAAS. Method validation of this toxicological analysis was performed by the use of certified reference materials, and assessed through accuracy, precision, specificity, range, quantitation, and detection limits., Results: Mean Cr levels of maternal blood, placentas, and cord blood were 0.337±0.222 μg/L, 0.221±0.160 μg/kg, 0.121±0.096 μg/L, respectively while mean Ni concentrations were 0.128±0.093 μg/L, 0.124±0.067 μg/kg, 0.099±0.067 μg/L, respectively. The method showed linearity with excellent correlation coefficients (r 2 ) for Cr (0.9994) and Ni (0.9999). Satisfactory recovery and coefficient of variation for Cr and Ni were 102.85% and 102.35%; 1.75% and 2.91%, respectively. Relative error did not exceed 3%, demonstrating the accuracy of the method. Control charts were drawn to assess inter-day stability. The predicted reference ranges for Cr and Ni concentrations in maternal blood, placenta and cord blood were: Cr 0.033-0.75 μg/L; 0.032-0.526 μg/kg; 0.031-0.309 μg/L and for Ni were 0.011-0.308 μg/L; 0.024-0.251 μg/kg; 0.066-0.209 μg/L, respectively., Conclusion: The reported reference values of biological specimens in this paper will provide complementary aid to health professionals in terms of assessment of environmental and occupational exposure.

Phytoremediation is an efficient and promising cleanup technology to extract or inactivate heavy metals and several organic and inorganic pollutants from soil and water. In this study, different Brassica nigra L. ecotypes, including Diyarbakır, collected from mining areas were exposed to different concentrations of copper and harvested after 72 h of Cu stress for the assessment of phytoremediation capacity. The Diyarbakır ecotype was called as "metallophyte" because of surviving at 500 μM Cu. To better understand Cu stress mechanism, ArabidopsisATH1 genome array was used to compare the gene expression in root and shoot tissues of B. nigra under 25 μM Cu. The response to Cu was much stronger in roots (88 genes showing increased or decreased mRNA levels) than in leaf tissues (24 responding genes). These genes were classified into the metal transport and accumulation-related genes, signal transduction and metabolism-related genes, and transport facilitation genes. Glutathione pathway-related genes (γ-ECS, PC, etc.) mRNAs were identified as differentially expressed in root and shoot tissues. QRT-PCR validation experiments showed that γ-ECS and PC expression was upregulated in the shoot and leaf tissues of the 100 μM Cu-subjected B. nigra-tolerant ecotype. This is the first study showing global expression profiles in response to Cu stress in B. nigra by Arabidopsis genome array. This work presented herein provides a well-illustrated insight into the global gene expression to Cu stress response in plants, and identified genes from microarray data will serve as molecular tools for the phytoremediation applications in the future.

The use of plants for the improvement of soils contaminated with hydrocarbons has been a primary research focus in phytoremediation studies. Obtaining insights regarding genes that are differentially induced by petroleum hydrocarbon stress and understanding plant response mechanisms against petroleum hydrocarbons at molecular level is essential for developing better phytoremediation strategies to remove these hazardous contaminants. The purpose of this study was to analyze the transcriptomal profile changes under hydrocarbon stress in maize plants and identify the genes associated with the phytoremediative capacity. Zea mays GeneChips were used to analyze the global transcriptome profiles of maize treated with different concentrations of petroleum hydrocarbons. In total, 883, 1281, and 2162 genes were differentially induced or suppressed in the comparisons of 0 (control) vs. 1% crude petroleum, 1 vs. 5% crude petroleum, and 0 vs. 5% crude petroleum, respectively. The differentially expressed genes were functionally associated with the osmotic stress response mechanism, likely preventing the uptake of water from the roots, and the phytoremediative capacity of plants, e.g., secretory pathway genes. The results presented here show the regulatory mechanisms in the response to petroleum hydrocarbon pollution in soil. Our study provides global gene expression data of Z. mays in response to petroleum hydrocarbon stress that could be useful for further studies investigating the biodegradation mechanism in maize and other plants.

Öncü-Öner T, Ünalp A, Porsuk-Doru İ, Ağılkaya S, Güleryüz H, Saraç A, Ergüner B, Yüksel B, Hız-Kurul S, Cingöz S. GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria. Turk J Pediatr 2018; 60: 229-237. Polymicrogyria is a disorder of neuronal migration characterized by excessive cortical folding and partially fused gyri separated by shallow sulci. Homozygous mutations in the GPR56 gene, which regulates migration of neural precursor cells, are associated with bilateral frontoparietal polymicrogyria (BFPP) syndrome including white matter changes, brainstem and cerebellar involvement. Herein, we describe three siblings of consanguineous parents with a homozygous germline mutation (p.R271*) located in the seventh exon of the GPR56 gene that was previously detected in only one Portuguese patient. Phenotypic/genotypic relationships were analysed according to the clinical characteristics in only index patient. While earlier reported patient was exhibiting seizures provoked by hot water, macrocephaly, cerebellar/brainstem hypoplasia and corpus callosum abnormalities, the index patient showed only hypoplasia of brainstem, focal onset bilateral tonic clonic seizure. Despite the phenotypic similarities in two patients, the potential causes of the variation in the expression of the p.R271* variant between the two affected families might be genetic or epigenetic factors beyond the GPR56 gene. Consequently, the present findings show that the same mutation in GPR56 gene can have different phenotypic effects. Therefore, additional functional studies are needed to detect the phenotypic spectrum of the p.R271* mutation in GPR56, and provide insight into the mechanism of normal cortical development and regional patterning of the cerebral cortex.

In this study, the phytoremediation capacity of Azolla filiculoides Lam. for the water resources contaminated with petroleum hydrocarbons was investigated. The plants were grown in nitrogen-free Hoagland nutrient solution containing 0.005%, 0.01%, 0.05%, 0.1%, 0.2%, 0.3%, 0.4%, and 0.5% crude oil under greenhouse conditions for 15 days. Although the growth rate of the plants were not negatively influenced by the presence of crude oil in the media for the concentration of 0.005% and 0.01% v/v, a gradual impeding effect of crude oil in the growth media has been observed at concentrations 0.05-0.1%. More than 0.1% crude oil in the growth medium ostensibly retarded the growth. For example, 0.2% oil in the media reduced growth approximately 50% relative to the control, and the presence of crude oil at concentrations 0.3% or more were lethal. The data about the percentage of plant growth, fresh weight increase and root growth clearly indicated that the tolerance level of A. filiculoides plants to crude oil ranges between 0.1% and 0.2%. In comparison to control samples, the biodegradation rate of total aliphatic and aromatic (phenathrene) hydrocarbons at 0.05-0.2% oil concentrations, was 94-73% and 81-77%, respectively. On the other hand, in case of further increases in oil concentration in media, i.e.; 0.3-0.5%, the biodegradation rate was still higher in the experimental samples, respectively 71-63% and 75-71%. The high biodegradation rates of petroleum hydrocarbons in the experimental samples suggested that A. filiculoides plants could be a promising candidate to be used for the phytoremediation of low crude oil contaminated precious freshwater resources.

The improvements in high throughput sequencing technologies (HTS) made clinical sequencing projects such as ClinSeq and Genomics England feasible. Although there are significant improvements in accuracy and reproducibility of HTS based analyses, the usability of these types of data for diagnostic and prognostic applications necessitates a near perfect data generation. To assess the usability of a widely used HTS platform for accurate and reproducible clinical applications in terms of robustness, we generated whole genome shotgun (WGS) sequence data from the genomes of two human individuals in two different genome sequencing centers. After analyzing the data to characterize SNPs and indels using the same tools (BWA, SAMtools, and GATK), we observed significant number of discrepancies in the call sets. As expected, the most of the disagreements between the call sets were found within genomic regions containing common repeats and segmental duplications, albeit only a small fraction of the discordant variants were within the exons and other functionally relevant regions such as promoters. We conclude that although HTS platforms are sufficiently powerful for providing data for first-pass clinical tests, the variant predictions still need to be confirmed using orthogonal methods before using in clinical applications.

Background: Fasciola hepatica causes chronic liver disease, fasciolosis, leading to significant losses in the livestock economy and concerns for human health in many countries. The identification of F. hepatica genes involved in the parasite's virulence through modulation of host immune system is utmost important to comprehend evasion mechanisms of the parasite and develop more effective strategies against fasciolosis. In this study, to identify the parasite's putative virulence genes which are associated with host immunomodulation, we explored whole transcriptome of an adult F. hepatica using current transcriptome profiling approaches integrated with detailed in silico analyses. In brief, the comparison of the parasite transcripts with the specialised public databases containing sequence data of non-parasitic organisms (Dugesiidae species and Caenorhabditis elegans) or of numerous pathogens and investigation of the sequences in terms of nucleotide evolution (directional selection) and cytokine signaling relation were conducted., Results: NGS of the whole transcriptome resulted in 19,534,766 sequence reads, yielding a total of 40,260 transcripts (N₅₀ = 522 bp). A number of the parasite transcripts (n = 1,671) were predicted to be virulence-related on the basis of the exclusive homology with the pathogen-associated data, positive selection or relationship with cytokine signaling. Of these, a group of the virulence-related genes (n = 62), not previously described, were found likely to be associated with immunomodulation based on in silico functional categorisation, showing significant sequence similarities with various immune receptors (i.e. MHC I class, TGF-β receptor, toll/interleukin-1 receptor, T-cell receptor, TNF receptor, and IL-18 receptor accessory protein), cytokines (i.e. TGF-β, interleukin-4/interleukin-13 and TNF-α), cluster of differentiations (e.g. CD48 and CD147) or molecules associated with other immunomodulatory mechanisms (such as regulation of macrophage activation). Some of the genes (n = 5) appeared to be under positive selection (Ka/Ks > 1), imitating proteins associated with cytokine signaling (through sequence homologies with thrombospondin type 1, toll/interleukin-1 receptor, TGF-β receptor and CD147)., Conclusions: With a comparative transcriptome profiling approach, we have identified a number of potential immunomodulator genes of F. hepatica (n = 62), which are firstly described here, could be employed for the development of better strategies (including RNAi) in the battle against both zoonotically and economically important disease, fasciolosis.

Background: Human de novo single-nucleotide variation (SNV) rate is estimated to range between 0.82-1.70×10(-8) mutations per base per generation. However, contribution of early postzygotic mutations to the overall human de novo SNV rate is unknown., Methods: We performed deep whole-genome sequencing (more than 30-fold coverage per individual) of the whole-blood-derived DNA samples of a healthy monozygotic twin pair and their parents. We examined the genotypes of each individual simultaneously for each of the SNVs and discovered de novo SNVs regarding the timing of mutagenesis. Putative de novo SNVs were validated using Sanger-based capillary sequencing., Results: We conservatively characterised 23 de novo SNVs shared by the twin pair, 8 de novo SNVs specific to twin I and 1 de novo SNV specific to twin II. Based on the number of de novo SNVs validated by Sanger sequencing and the number of callable bases of each twin, we calculated the overall de novo SNV rate of 1.31×10(-8) and 1.01×10(-8) for twin I and twin II, respectively. Of these, rates of the early postzygotic de novo SNVs were estimated to be 0.34×10(-8) for twin I and 0.04×10(-8) for twin II., Conclusions: Early postzygotic mutations constitute a substantial proportion of de novo mutations in humans. Therefore, genome mosaicism resulting from early mitotic events during embryogenesis is common and could substantially contribute to the development of diseases., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)