15 research outputs found

    Genomic insights into the origin of farming in the ancient Near East

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    We report genome-wide ancient DNA from 44 ancient Near Easterners ranging in time between ~12,000 and 1,400 BC, from Natufian hunter–gatherers to Bronze Age farmers. We show that the earliest populations of the Near East derived around half their ancestry from a ‘Basal Eurasian’ lineage that had little if any Neanderthal admixture and that separated from other non-African lineages before their separation from each other. The first farmers of the southern Levant (Israel and Jordan) and Zagros Mountains (Iran) were strongly genetically differentiated, and each descended from local hunter–gatherers. By the time of the Bronze Age, these two populations and Anatolian-related farmers had mixed with each other and with the hunter–gatherers of Europe to greatly reduce genetic differentiation. The impact of the Near Eastern farmers extended beyond the Near East: farmers related to those of Anatolia spread westward into Europe; farmers related to those of the Levant spread southward into East Africa; farmers related to those of Iran spread northward into the Eurasian steppe; and people related to both the early farmers of Iran and to the pastoralists of the Eurasian steppe spread eastward into South Asia

    Fiber Optic Pressure Sensor with Self-compensation Capability for Harsh Environment Applications

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    A novel fiber optic pressure sensor system with self-compensation capability for harsh environment applications is reported. The system compensates for the fluctuation of source power and the variation of fiber losses by self-referencing the two channel outputs of a fiber optic extrinsic Fabry-Pérot interfrometric (EFPI) sensor probe. A novel sensor fabrication system based on the controlled thermal bonding method is also described. For the first time, high-performance fiber optic EFPI sensor probes can be fabricated in a controlled fashion with excellent mechanical strength and temperature stability to survive and operate in the high-pressure and high-temperature coexisting harsh environment. Using a single-mode fiber sensor probe and the prototype signal-processing unit, we demonstrate pressure measurement up to 8400 psi and achieved resolution of 0.005% (2σ=0.4 psi) at atmospheric pressure, repeatability of ±0.15% (±13 psi), and 25-h stability of 0.09% (7 psi). The system also shows excellent remote operation capability when tested by separating the sensor probe from its signal-processing unit at a distance of 6.4 km

    A systematic survey of loss-of-function variants in human protein-coding genes

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    Genome-sequencing studies indicate that all humans carry many genetic variants predicted to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy in the human genome. Here we apply stringent filters to 2951 putative LoF variants obtained from 185 human genomes to determine their true prevalence and properties. We estimate that human genomes typically contain ~100 genuine LoF variants with ~20 genes completely inactivated. We identify rare and likely deleterious LoF alleles, including 26 known and 21 predicted severe disease-causing variants, as well as common LoF variants in nonessential genes. We describe functional and evolutionary differences between LoF-tolerant and recessive disease genes and a method for using these differences to prioritize candidate genes found in clinical sequencing studies

    The Genotype-Tissue Expression (GTEx) project

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    Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain unknown. Most associated variants are not correlated with protein-coding changes, suggesting that polymorphisms in regulatory regions probably contribute to many disease phenotypes. Here we describe the Genotype-Tissue Expression (GTEx) project, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues
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