A global reference for human genetic variation

The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies.We thank the many people who were generous with contributing their samples to the project: the African Caribbean in Barbados; Bengali in Bangladesh; British in England and Scotland; Chinese Dai in Xishuangbanna, China; Colombians in Medellin, Colombia; Esan in Nigeria; Finnish in Finland; Gambian in Western Division – Mandinka; Gujarati Indians in Houston, Texas, USA; Han Chinese in Beijing, China; Iberian populations in Spain; Indian Telugu in the UK; Japanese in Tokyo, Japan; Kinh in Ho Chi Minh City, Vietnam; Luhya in Webuye, Kenya; Mende in Sierra Leone; people with African ancestry in the southwest USA; people with Mexican ancestry in Los Angeles, California, USA; Peruvians in Lima, Peru; Puerto Ricans in Puerto Rico; Punjabi in Lahore, Pakistan; southern Han Chinese; Sri Lankan Tamil in the UK; Toscani in Italia; Utah residents (CEPH) with northern and western European ancestry; and Yoruba in Ibadan, Nigeria. Many thanks to the people who contributed to this project: P. Maul, T. Maul, and C. Foster; Z. Chong, X. Fan, W. Zhou, and T. Chen; N. Sengamalay, S. Ott, L. Sadzewicz, J. Liu, and L. Tallon; L. Merson; O. Folarin, D. Asogun, O. Ikpwonmosa, E. Philomena, G. Akpede, S. Okhobgenin, and O. Omoniwa; the staff of the Institute of Lassa Fever Research and Control (ILFRC), Irrua Specialist Teaching Hospital, Irrua, Edo State, Nigeria; A. Schlattl and T. Zichner; S. Lewis, E. Appelbaum, and L. Fulton; A. Yurovsky and I. Padioleau; N. Kaelin and F. Laplace; E. Drury and H. Arbery; A. Naranjo, M. Victoria Parra, and C. Duque; S. Däkel, B. Lenz, and S. Schrinner; S. Bumpstead; and C. Fletcher-Hoppe. Funding for this work was from the Wellcome Trust Core Award 090532/Z/09/Z and Senior Investigator Award 095552/Z/11/Z (P.D.), and grants WT098051 (R.D.), WT095908 and WT109497 (P.F.), WT086084/Z/08/Z and WT100956/Z/13/Z (G.M.), WT097307 (W.K.), WT0855322/Z/08/Z (R.L.), WT090770/Z/09/Z (D.K.), the Wellcome Trust Major Overseas program in Vietnam grant 089276/Z.09/Z (S.D.), the Medical Research Council UK grant G0801823 (J.L.M.), the UK Biotechnology and Biological Sciences Research Council grants BB/I02593X/1 (G.M.) and BB/I021213/1 (A.R.L.), the British Heart Foundation (C.A.A.), the Monument Trust (J.H.), the European Molecular Biology Laboratory (P.F.), the European Research Council grant 617306 (J.L.M.), the Chinese 863 Program 2012AA02A201, the National Basic Research program of China 973 program no. 2011CB809201, 2011CB809202 and 2011CB809203, Natural Science Foundation of China 31161130357, the Shenzhen Municipal Government of China grant ZYC201105170397A (J.W.), the Canadian Institutes of Health Research Operating grant 136855 and Canada Research Chair (S.G.), Banting Postdoctoral Fellowship from the Canadian Institutes of Health Research (M.K.D.), a Le Fonds de Recherche duQuébec-Santé (FRQS) research fellowship (A.H.), Genome Quebec (P.A.), the Ontario Ministry of Research and Innovation – Ontario Institute for Cancer Research Investigator Award (P.A., J.S.), the Quebec Ministry of Economic Development, Innovation, and Exports grant PSR-SIIRI-195 (P.A.), the German Federal Ministry of Education and Research (BMBF) grants 0315428A and 01GS08201 (R.H.), the Max Planck Society (H.L., G.M., R.S.), BMBF-EPITREAT grant 0316190A (R.H., M.L.), the German Research Foundation (Deutsche Forschungsgemeinschaft) Emmy Noether Grant KO4037/1-1 (J.O.K.), the Beatriu de Pinos Program grants 2006 BP-A 10144 and 2009 BP-B 00274 (M.V.), the Spanish National Institute for Health Research grant PRB2 IPT13/0001-ISCIII-SGEFI/FEDER (A.O.), Ewha Womans University (C.L.), the Japan Society for the Promotion of Science Fellowship number PE13075 (N.P.), the Louis Jeantet Foundation (E.T.D.), the Marie Curie Actions Career Integration grant 303772 (C.A.), the Swiss National Science Foundation 31003A_130342 and NCCR “Frontiers in Genetics” (E.T.D.), the University of Geneva (E.T.D., T.L., G.M.), the US National Institutes of Health National Center for Biotechnology Information (S.S.) and grants U54HG3067 (E.S.L.), U54HG3273 and U01HG5211 (R.A.G.), U54HG3079 (R.K.W., E.R.M.), R01HG2898 (S.E.D.), R01HG2385 (E.E.E.), RC2HG5552 and U01HG6513 (G.T.M., G.R.A.), U01HG5214 (A.C.), U01HG5715 (C.D.B.), U01HG5718 (M.G.), U01HG5728 (Y.X.F.), U41HG7635 (R.K.W., E.E.E., P.H.S.), U41HG7497 (C.L., M.A.B., K.C., L.D., E.E.E., M.G., J.O.K., G.T.M., S.A.M., R.E.M., J.L.S., K.Y.), R01HG4960 and R01HG5701 (B.L.B.), R01HG5214 (G.A.), R01HG6855 (S.M.), R01HG7068 (R.E.M.), R01HG7644 (R.D.H.), DP2OD6514 (P.S.), DP5OD9154 (J.K.), R01CA166661 (S.E.D.), R01CA172652 (K.C.), P01GM99568 (S.R.B.), R01GM59290 (L.B.J., M.A.B.), R01GM104390 (L.B.J., M.Y.Y.), T32GM7790 (C.D.B., A.R.M.), P01GM99568 (S.R.B.), R01HL87699 and R01HL104608 (K.C.B.), T32HL94284 (J.L.R.F.), and contracts HHSN268201100040C (A.M.R.) and HHSN272201000025C (P.S.), Harvard Medical School Eleanor and Miles Shore Fellowship (K.L.), Lundbeck Foundation Grant R170-2014-1039 (K.L.), NIJ Grant 2014-DN-BX-K089 (Y.E.), the Mary Beryl Patch Turnbull Scholar Program (K.C.B.), NSF Graduate Research Fellowship DGE-1147470 (G.D.P.), the Simons Foundation SFARI award SF51 (M.W.), and a Sloan Foundation Fellowship (R.D.H.). E.E.E. is an investigator of the Howard Hughes Medical Institute

Novel Electrokinetic Microfluidic Detector for Evaluating Effectiveness of Microalgae Disinfection in Ship Ballast Water

Ship ballast water treatment methods face many technical challenges. The effectiveness of every treatment method usually is evaluated by using large scale equipment and a large volume of samples, which involves time-consuming, laborious, and complex operations. This paper reports the development of a novel, simple and fast platform of methodology in evaluating the efficiency and the best parameters for ballast water treatment systems, particularly in chemical disinfection. In this study, a microfluidic chip with six sample wells and a waste well was designed, where sample transportation was controlled by electrokinetic flow. The performance of this microfluidic platform was evaluated by detecting the disinfection of Dunaliella salina (D. salina) algae in ballast water treated by sodium hypochlorite (NaClO) solution. Light-induced chlorophyll fluorescence (LICF) intensity was used to determine the viability of microalgae cells in the system, which can be operated automatically with the dimension of the detector as small as 50 mm × 24 mm × 5 mm. The 40 µL volume of sample solution was used for each treatment condition test and the validity of detection can be accomplished within about five min. The results show that the viability of microalgae cells under different treatment conditions can be determined accurately and further optimal treatment conditions including concentrations of NaClO and treatment time can also be obtained. These results can provide accurate evaluation and optimal parameters for ballast water treatment methods

Two-Dimensional C/TiO₂ Heterogeneous Hybrid for Noble-Metal-Free Hydrogen Evolution

Developing catalysts to improve excitonic charge-carrier transfer and separation properties is critical for solar energy conversion through photochemical catalysis. Layer staking of two-dimensional (2-D) materials has opened up opportunities to engineer heteromaterials for strong interlayer excitonic transition. However, scalable fabrication of heteromaterials with seamless and clean interfaces remains challenging. Here, we report an in situ growth strategy for synthesizing a 2-D C/TiO₂ heterogeneous hybrid. Layered structure of TiO₂ and chemically bonded Ti–C between graphitic carbon and TiO₂ generate synergetic effects, promoting interfacial charge transfer and separation, leading to more electrons participating in photoreduction for hydrogen evolution. The Ti–C bond as reactive sites, such as platinum behavior, makes it an interesting potential substitue for noble metals in hydrogen evolution. In the absence of noble metals, the C/TiO₂ hybrid exhibits a significant enhancement of hydrogen evolution from water splitting using solar light, ∼3.046 mmol h^–1 g^–1. The facile and scalable fabrication of 2-D heterogeneous hybrid with enhanced interfacial charge transfer and separation provides perspectives for the creation of 2-D heteromaterials in optoelectronics and solar-light-harvesting applications

Visible–Near-Infrared-Light-Driven Oxygen Evolution Reaction with Noble-Metal-Free WO₂–WO₃ Hybrid Nanorods

Understanding and manipulating the one half-reaction of photoinduced hole-oxidation to oxygen are of fundamental importance to design and develop an efficient water-splitting process. To date, extensive studies on oxygen evolution from water splitting have focused on visible-light harvesting. However, capturing low-energy photons for oxygen evolution, such as near-infrared (NIR) light, is challenging and not well-understood. This report presents new insights into photocatalytic water oxidation using visible and NIR light. WO₂–WO₃ hybrid nanorods were in situ fabricated using a wet-chemistry route. The presence of metallic WO₂ strengthens light absorption and promotes the charge-carrier separation of WO₃. The efficiency of the oxygen evolution reaction over noble-metal-free WO₂–WO₃ hybrids was found to be significantly promoted. More importantly, NIR light (≥700 nm) can be effectively trapped to cause the photocatalytic water oxidation reaction. The oxygen evolution rates are even up to around 220 (λ = 700 nm) and 200 (λ = 800 nm) mmol g^–1 h^–1. These results demonstrate that the WO₂–WO₃ material is highly active for water oxidation with low-energy photons and opens new opportunities for multichannel solar energy conversion

Antibacterial Property and Cytotoxicity of a Poly(lactic acid)/Nanosilver-Doped Multiwall Carbon Nanotube Nanocomposite

A novel method was used to synthesize a nanosilver-doped multiwall carbon nanotube (MWCNT-Ag), and subsequently, the novel poly(lactic acid) (PLA)- and MWCNT-Ag-based biocompatible and antimicrobial nanocomposites were prepared by melt blending. Based on energy dispersive X-ray spectrometry images, an MWCNT-Ag was successfully synthesized. The effect of the MWCNT-Ag on the PLA bionanocomposites was investigated by evaluating their thermal and mechanical properties, antifungal activity, and cytotoxicity. The nanocomposites exhibited a high degree of biocompatibility with the MWCNT-Ag content, which was less than 0.3 phr. Furthermore, tensile strength testing, thermogravimetric analysis, differential scanning calorimetry, and antibacterial evaluation revealed that the tensile strength, thermostability, glass transition temperature, and antibacterial properties were enhanced by increasing the MWCNT-Ag content. Finally, hydrolysis analysis indicated that the low MWCNT-Ag content could increase the packing density of PLA

Preparation and Characterization of Bioplastic-Based Green Renewable Composites from Tapioca with Acetyl Tributyl Citrate as a Plasticizer

Granular tapioca was thermally blended with poly(lactic acid) (PLA). All blends were prepared using a plasti-corder and characterized for tensile properties, thermal properties and morphology. Scanning electron micrographs showed that phase separation occurred, leading to poor tensile properties. Therefore, methylenediphenyl diisocyanate (MDI) was used as an interfacial compatibilizer to improve the mechanical properties of PLA/tapioca blends. The addition of MDI could improve the tensile strength of the blend with 60 wt% tapioca, from 19.8 to 42.6 MPa. In addition, because PLA lacked toughness, acetyl tributyl citrate (ATBC) was added as a plasticizer to improve the ductility of PLA. A significant decrease in the melting point and glass-transition temperature was observed on the basis of differential scanning calorimetry, which indicated that the PLA structure was not dense after ATBC was added. As such, the brittleness was improved, and the elongation at break was extended to several hundred percent. Therefore, mixing ATBC with PLA/tapioca/MDI blends did exhibit the effect of plasticization and biodegradation. The results also revealed that excessive plasticizer would cause the migration of ATBC and decrease the tensile properties