We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the populations surveyed. The map is estimated to capture untyped common variation with an average maximum r2 of between 0.9 and 0.96 depending on population. We demonstrate that the current generation of commercial genome-wide genotyping products captures common Phase II SNPs with an average maximum r2 of up to 0.8 in African and up to 0.95 in non-African populations, and that potential gains in power in association studies can be obtained through imputation. These data also reveal novel aspects of the structure of linkage disequilibrium. We show that 10-30% of pairs of individuals within a population share at least one region of extended genetic identity arising from recent ancestry and that up to 1% of all common variants are untaggable, primarily because they lie within recombination hotspots. We show that recombination rates vary systematically around genes and between genes of different function. Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations.
With the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms from the International HapMap Project Phase 2 (HapMap2)1. We used 'longrange haplotype' methods, which were developed to identify alleles segregating in a population that have undergone recent selection2, and we also developed new methods that are based on cross-population comparisons to discover alleles that have swept to near-fixation within a population. The analysis reveals more than 300 strong candidate regions. Focusing on the strongest 22 regions, we develop a heuristic for scrutinizing these regions to identify candidate targets of selection. In a complementary analysis, we identify 26 non-synonymous, coding, single nucleotide polymorphisms showing regional evidence of positive selection. Examination of these candidates highlights three cases in which two genes in a common biological process have apparently undergone positive selection in the same population: LARGE and DMD, both related to infection by the Lassa virus3, in West Africa; SLC24A5 and SLC45A2, both involved in skin pigmentation4,5, in Europe; and EDAR and EDA2R, both involved in development of hair follicles6, in Asia. ©2007 Nature Publishing GroupCorrespondence and requests for materials should be addressed to P.C.S. (pardis@broad.mit.edu).. * These authors contributed equally to this work. † Lists of participants and affiliations appear at the end of the paper. Author Contributions P.C.S., P.V., B.F. and E.S.L. initiated the project. P.V., B.F. and P.C.S. developed key software. P.C.S., P.V., B.F., S.F.S., J.L., E.H., C.C., X.X., E.B., S.A.McC. and R.G. performed analysis. P.C.S., E.B. and E.H. performed experiments. P.C.S., E.S.L., P.V. and S.F.S. wrote the manuscript.Full Methods and any associated references are available in the online version of the paper at www.nature.com/nature.Supplementary Information is linked to the online version of the paper at www.nature.com/nature.Reprints and permissions information is available at www.nature.com/reprints. An increasing amount of information about genetic variation, together with new analytical methods, is making it possible to explore the recent evolutionary history of the human population. The first phase of the International Haplotype Map, including ~1 million single nucleotide polymorphisms (SNPs)7, allowed preliminary examination of natural selection in humans. Now, with the publication of the Phase 2 map (HapMap2)1 in a companion paper, over 3 million SNPs have been genotyped in 420 chromosomes from three continents (120 European (CEU), 120 African (YRI) and 180 Asian from Japan and China (JPT + CHB)). Europe PMC Funders GroupIn our analysis of HapMap2, we first implemented two widely used tests that detect recent positive selection by finding common alleles carried on unusually long haplotypes2. The two, the Long-Range Haplotype (LRH)8 and the integrated Haplotype Score (iHS)9 tests...
A haplotype map of the human genomeThe International HapMap Consortium* Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms (SNPs) for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted. These data document the generality of recombination hotspots, a block-like structure of linkage disequilibrium and low haplotype diversity, leading to substantial correlations of SNPs with many of their neighbours. We show how the HapMap resource can guide the design and analysis of genetic association studies, shed light on structural variation and recombination, and identify loci that may have been subject to natural selection during human evolution.
Among lithium transition metal oxides used as intercalation electrodes for rechargeable lithium batteries, LiCoO 2 is considered to be the most stable in the ␣-NaFeO 2 structure type. It has previously been believed that cation ordering is unaffected by repeated electrochemical removal and insertion. We have conducted direct observations, at the particle scale, of damage and cation disorder induced in LiCoO 2 cathodes by electrochemical cycling. Using transmission electron microscopy imaging and electron diffraction, it was found that (i) individual LiCoO 2 particles in a cathode cycled from 2.5 to 4.35 V against a Li anode are subject to widely varying degrees of damage; (ii) cycling induces severe strain, high defect densities, and occasional fracture of particles; and (iii) severely strained particles exhibit two types of cation disorder, defects on octahedral site layers (including cation substitutions and vacancies) as well as a partial transformation to spinel tetrahedral site ordering. The damage and cation disorder are localized and have not been detected by conventional bulk characterization techniques such as X-ray or neutron diffraction. Cumulative damage of this nature may be responsible for property degradation during overcharging or in long-term cycling of LiCoO 2-based rechargeable lithium batteries.
Simultaneous translation, which translates sentences before they are finished, is useful in many scenarios but is notoriously difficult due to word-order differences. While the conventional seq-to-seq framework is only suitable for full-sentence translation, we propose a novel prefix-to-prefix framework for simultaneous translation that implicitly learns to anticipate in a single translation model. Within this framework, we present a very simple yet surprisingly effective "wait-k" policy trained to generate the target sentence concurrently with the source sentence, but always k words behind. Experiments show our strategy achieves low latency and reasonable quality (compared to full-sentence translation) on 4 directions: zh↔en and de↔en. * M.M. and L.H. contributed equally; L.H. conceived the main ideas (prefix-to-prefix and wait-k) and directed the project, while M.M. led the implementations on RNN and Transformer. See example videos, media reports, code, and data at https://simultrans-demo.github.io/. President Bush met with Putin in MoscowBùshí Bush zǒngtǒng President zài at Mòsīkē Moscow yǔ with Pǔjīng Putin huìwù meet prediction read write Source side → Target side → 2 Preliminaries: Full-Sentence NMT We first briefly review standard (full-sentence) neural translation to set up the notations.Regardless of the particular design of different seq-to-seq models, the encoder always takes
A novel strategy for the controlled synthesis of 2D MoS2/C hybrid nanosheets consisting of the alternative layer-by-layer interoverlapped single-layer MoS2 and mesoporous carbon (m-C) is demonstrated. Such special hybrid nanosheets with a maximized MoS2 /m-C interface contact show very good performance for lithium-ion batteries in terms of high reversible capacity, excellent rate capability, and outstanding cycling stability.
Atomically thin 2D-layered transition-metal dichalcogenides have been studied extensively in recent years because of their intriguing physical properties and promising applications in nanoelectronic devices. Among them, ReSe2 is an emerging material that exhibits a stable distorted 1T phase and strong in-plane anisotropy due to its reduced crystal symmetry. Here, the anisotropic nature of ReSe2 is revealed by Raman spectroscopy under linearly polarized excitations in which different vibration modes exhibit pronounced periodic variations in intensity. Utilizing high-quality ReSe2 nanosheets, top-gate ReSe2 field-effect transistors were built that show an excellent on/off current ratio exceeding 10(7) and a well-developed current saturation in the current-voltage characteristics at room temperature. Importantly, the successful synthesis of ReSe2 directly onto hexagonal boron nitride substrates has effectively improved the electron motility over 500 times and the hole mobility over 100 times at low temperatures. Strikingly, corroborating with our density-functional calculations, the ReSe2-based photodetectors exhibit a polarization-sensitive photoresponsivity due to the intrinsic linear dichroism originated from high in-plane optical anisotropy. With a back-gate voltage, the linear dichroism photodetection can be unambiguously tuned both in the electron and hole regime. The appealing physical properties demonstrated in this study clearly identify ReSe2 as a highly anisotropic 2D material for exotic electronic and optoelectronic applications.
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