Documentaries, videos and podcasts
June 7, 2021
Satisfy your wanderlust with travel photography books, iconic memoirs, adventurous novels, and bestselling cookbooks.
June 6, 2021
Travellers are seeking out the Way of St James for spiritual exercise to help them cope with the pandemic.
June 4, 2021
Schools like Columbia, Duke, UC Berkeley, and more have shared their 2021 summer reading recommendations online. Here are some of their best books.
June 4, 2021
Social News XYZ
Santiago, June 4 (SocialNews.XYZ) Chile has temporarily suspended the Oxford-AstraZeneca vaccine against Covid-19 for people under 45 years of age, after an "adverse event" was reported in a person immunised with the jab. In a... - Social News XYZ
May 22, 2021
Nina Hobson has been a nomad since moving to Germany at 18. She's lived in 10 countries and is about to move to Uruguay. This is how to do it right.
May 16, 2021
Pizzaslime has perfected meme fashion with a creative agency, record label, TV show, and merch line, but "it's hard to define what Pizzaslime is."
April 9, 2021
Los Angeles Times
What's the role of artists in times of social upheaval? Chilean playwright and director Guillermo Calderón returns to REDCAT with a micro-documentary.
Ebert, P., Audano, P. A., Zhu, Q., Rodriguez-Martin, B., Porubsky, D., Bonder, M. J., Sulovari, A., Ebler, J., Zhou, W., Serra Mari, R., Yilmaz, F., Zhao, X., Hsieh, P., Lee, J., Kumar, S., Lin, J., Rausch, T., Chen, Y., Ren, J., Santamarina, M., Höps, W., Ashraf, H., Chuang, N. T., Yang, X., Munson, K. M., Lewis, A. P., Fairley, S., Tallon, L. J., Clarke, W. E., Basile, A. O., Byrska-Bishop, M., Corvelo, A., Evani, U. S., Lu, T.-Y., Chaisson, M. J. P., Chen, J., Li, C., Brand, H., Wenger, A. M., Ghareghani, M., Harvey, W. T., Raeder, B., Hasenfeld, P., Regier, A. A., Abel, H. J., Hall, I. M., Flicek, P., Stegle, O., Gerstein, M. B., Tubio, J. M. C., Mu, Z., Li, Y. I., Shi, X., Hastie, A. R., Ye, K., Chong, Z., Sanders, A. D., Zody, M. C., Talkowski, M. E., Mills, R. E., Devine, S. E., Lee, C., Korbel, J. O., Marschall, T., Eichler, E. E.
April 2, 2021
Many human genomes have been reported using short-read technology, but it is difficult to resolve structural variants (SVs) using these data. These genomes thus lack comprehensive comparisons among individuals and populations. Ebert et al. used long-read structural variation calling across 64 human genomes representing diverse populations and developed new methods for variant discovery. This approach allowed the authors to increase the number of confirmed SVs and to describe the patterns of variation across populations. From this dataset, they identified quantitative trait loci affected by these SVs and determined how they may affect gene expression and potentially explain genome-wide association study hits. This information provides insights into patterns of normal human genetic variation and generates reference genomes that better represent the diversity of our species. Science , this issue p. [eabf7117] ### INTRODUCTION The characterization of the full spectrum of genetic variation is critical to understanding human health and disease. Recent technological advances have made it possible to survey genetic variants on the level of fully reconstructed haplotypes, leading to substantially improved sensitivity in detecting and characterizing large structural variants (SVs), including complex classes. ### RATIONALE We focused on comprehensive genetic variant discovery from a human diversity panel representing 25 human populations. We leveraged a recently developed computational pipeline that combines long-read technology and single-cell template strand sequencing (Strand-seq) to generate fully phased diploid genome assemblies without guidance of a reference genome or use of parent-child trio information. Variant discovery from high-quality haplotype assemblies increases sensitivity and yields variants that are not only sequence resolved but also embedded in their genomic context, substantially improving genotyping in short-read sequenced cohorts and providing an assessment of their potential functional relevance. ### RESULTS We generated fully phased genome assemblies for 35 individuals (32 unrelated and three children from parent-child trios). Genomes are highly contiguous [average minimum contig length needed to cover 50% of the genome: 26 million base pairs (Mbp)], accurate at the base-pair level (quality value > 40), correctly phased (average switch error rate 0.18%), and nearly complete compared with GRCh38 (median aligned contig coverage >95%). From the set of 64 unrelated haplotype assemblies, we identified 15.8 million single-nucleotide variants (SNVs), 2.3 million insertions/deletions (indels; 1 to 49 bp in length), 107,590 SVs (≥50 bp), 316 inversions, and 9453 nonreference mobile elements. The large fraction of African individuals in our study (11 of 35) enhances the discovery of previously unidentified variation (approximately twofold increase in discovery rate compared with non-Africans). Overall, ~42% of SVs are previously unidentified compared with recent long-read-based studies. Using orthogonal technologies, we validated most events and discovered ~35 structurally divergent regions per human genome (>50 kbp) not yet fully resolved with long-read genome assembly. We found that homology-mediated mechanisms of SV formation are twice as common as expected from previous reports that used short-read sequencing. We constructed a phylogeny of active L1 source elements and observed a correlation between evolutionary age and features such as the activity level, suggesting that younger elements contribute disproportionately to disease-causing variation. Transduction tracing allowed the identification of 54 active SVA retrotransposon source elements, which mobilize nonrepetitive sequences at their 5′ and 3′ ends. We genotyped up to 50,340 SVs into Illumina short-read data from the 1000 Genomes Project and identified variants associated with changes in gene expression, such as a 1069-bp SV near the gene LIPI , a locus that is associated with cardiac failure. We further identified 117 loci that show evidence for population stratification. These are candidates for local adaptation, such as a 4.0-kbp deletion of regulatory DNA LCT (lactase gene) among Europeans. ### CONCLUSION Fully reconstructed haplotype assemblies triple SV discovery when compared with short-read data and improve genotyping, leading to insights into SV mechanism of origin, evolutionary history, and disease association. ![Figure] Discovery and analysis of global human genetic diversity. Starting from a global panel of human diversity (top), we discovered structural variation from fully phased diploid genome assemblies (middle), resulting in a comprehensive catalog of sequence- and context-resolved variants. This facilitates integrative analysis and identification of new associations between variants and molecular phenotypes (bottom). SAS, South Asian; AMR, Admixed American; AFR, African; EUR, European; EAS, East Asian; INV, inversion; INS, insertion; DEL, deletion; MEI, mobile element insertion. Long-read and strand-specific sequencing technologies together facilitate the de novo assembly of high-quality haplotype-resolved human genomes without parent-child trio data. We present 64 assembled haplotypes from 32 diverse human genomes. These highly contiguous haplotype assemblies (average minimum contig length needed to cover 50% of the genome: 26 million base pairs) integrate all forms of genetic variation, even across complex loci. We identified 107,590 structural variants (SVs), of which 68% were not discovered with short-read sequencing, and 278 SV hotspots (spanning megabases of gene-rich sequence). We characterized 130 of the most active mobile element source elements and found that 63% of all SVs arise through homology-mediated mechanisms. This resource enables reliable graph-based genotyping from short reads of up to 50,340 SVs, resulting in the identification of 1526 expression quantitative trait loci as well as SV candidates for adaptive selection within the human population. : /lookup/doi/10.1126/science.abf7117 : pending:yes
April 1, 2021
SARS-CoV-2 Infection Among Health Care Workers - Full Text View.
February 22, 2021
Lagardère Travel Retail has been successful in a tender initiated by Arturo-Merino-Benítez airport in Santiago de Chile to operate 20 Foodservice outlets, in partnership with Chilean company Global Group Corporation (GGCorp). These openings mark the first time Lagardère Travel Retail operates in South America and in Chile, a market which offers remarkable growth prospects for the company's future regional development and in terms of regional and international air traffic. Lagardère Travel...
January 15, 2021
/PRNewswire/ -- A Lexington Partners ("Lexington"), uma gestora global líder de investimentos alternativos, anunciou hoje a abertura de um escritório em São...
By ESTEBAN FELIX and EVA VERGARA
December 14, 2020
CARAHUE, Chile (AP) -- Thousands of people gathered in the Chilean region of La Araucanía on Monday to witness a solar eclipse, rejoicing in the rare experience even though visibility was limited...
Volante Technologies, Inc.
December 9, 2020
/PRNewswire/ -- Volante Technologies Inc., proveedor líder de soluciones de pagos y mensajería financiera en la nube, está acelerando la convergencia del...
William J. Broad
June 5, 2020
With a new laser-scanning tool, marine biologists are getting a fine-comb look at some of the gloopiest and most mysterious organisms in the ocean.
April 2, 2020
Chilean telescopes that comb the skies seeking answers about some of the universe ́s most fundamental questions have confirmed they, too, have fallen victim to the mass disruption brought about by the new coronavirus.
January 31, 2020
Bank of Nova Scotia CEO Brian Porter.Cole Burston/Bloomberg files
January 28, 2020
When Chilean scientists last year discovered 14 Loa water frogs struggling to survive in a nearly dry river bed in the country's northern desert, the clock began ticking.
November 23, 2019
The death toll from violent unrest in Chile rose to 23 on Friday as the country entered its fifth week of social unrest.
November 22, 2019
Scotiabank has been buying businesses in the region while its peers have invested in the more familiar -- and safer -- environs of the United States
November 21, 2019
Six artists have been short-listed for the Hugo Boss Prize 2020, the biennial award for significant achievement in contemporary art. The short list is selected by a panel of international curators and critics in recognition of artists whose work is transforming the field. Since its inception in 1996, the prize has consistently functioned as a platform for the most relevant and influential art of the present, and has become a cornerstone of the Guggenheim's contemporary programming. The fo...
Be the first contributor by making edits