Cormac SheridanÂÂ
Jonathan M. Mudge, Jorge Ruiz-Orera, John R. Prensner, Marie A. Brunet, Ferriol Calvet, Irwin Jungreis, Jose Manuel Gonzalez, Michele Magrane, Thomas F. Martinez, Jana Felicitas Schulz, Yucheng T. Yang, M. Mar Albà , Julie L. Aspden, Pavel V. Baranov, Ariel A. Bazzini, Elspeth Bruford, Maria Jesus Martin, Lorenzo Calviello, Anne-Ruxandra Carvunis, Jin Chen, Juan Pablo Couso, Eric W. Deutsch, Paul Flicek, Adam Frankish, …Sebastiaan van HeeschÂ
Neta Zach & Melanie L. LeitnerÂ
Kim-Vy Nguyen-Ngoc, Matthew Wortham & Maike SanderÂ
doi : 10.1038/s41587-022-01350-x
At the beginning of the COVID-19 pandemic, analog tools such as nasopharyngeal swabs for PCR tests were center stage and the major prevention tactics of masking and physical distancing were a throwback to the 1918 influenza pandemic.
Felix Teufel, José Juan Almagro Armenteros, Alexander Rosenberg Johansen, Magnús Halldór GÃÂslason, Silas Irby Pihl, Konstantinos D. Tsirigos, Ole Winther, Søren Brunak, Gunnar von Heijne & Henrik NielsenÂ
doi : 10.1038/s41587-021-01156-3
Signal peptides (SPs) are short amino acid sequences that control protein secretion and translocation in all living organisms. SPs can be predicted from sequence data, but existing algorithms are unable to detect all known types of SPs. We introduce SignalP 6.0, a machine learning model that detects all five SP types and is applicable to metagenomic data.
Hasindu Gamaarachchi, Hiruna Samarakoon, Sasha P. Jenner, James M. Ferguson, Timothy G. Amos, Jillian M. Hammond, Hassaan Saadat, Martin A. Smith, Sri Parameswaran & Ira W. DevesonÂ
doi : 10.1038/s41587-021-01147-4
Nanopore sequencing depends on the FAST5 file format, which does not allow efficient parallel analysis. Here we introduce SLOW5, an alternative format engineered for efficient parallelization and acceleration of nanopore data analysis.
Tyler E. Miller, Caleb A. Lareau, Julia A. Verga, Erica A. K. DePasquale, Vincent Liu, Daniel Ssozi, Katalin Sandor, Yajie Yin, Leif S. Ludwig, Chadi A. El Farran, Duncan M. Morgan, Ansuman T. Satpathy, Gabriel K. Griffin, Andrew A. Lane, J. Christopher Love, Bradley E. Bernstein, Vijay G. Sankaran & Peter van GalenÂ
doi : 10.1038/s41587-022-01210-8
The combination of single-cell transcriptomics with mitochondrial DNA variant detection can be used to establish lineage relationships in primary human cells, but current methods are not scalable to interrogate complex tissues.
Sneha D. Goenka, John E. Gorzynski, Kishwar Shafin, Dianna G. Fisk, Trevor Pesout, Tanner D. Jensen, Jean Monlong, Pi-Chuan Chang, Gunjan Baid, Jonathan A. Bernstein, Jeffrey W. Christle, Karen P. Dalton, Daniel R. Garalde, Megan E. Grove, Joseph Guillory, Alexey Kolesnikov, Maria Nattestad, Maura R. Z. Ruzhnikov, Mehrzad Samadi, Ankit Sethia, Elizabeth Spiteri, Christopher J. Wright, Katherine Xiong, Tong Zhu, …Euan A. AshleyÂ
doi : 10.1038/s41587-022-01221-5
Whole-genome sequencing (WGS) can identify variants that cause genetic disease, but the time required for sequencing and analysis has been a barrier to its use in acutely ill patients. In the present study, we develop an approach for ultra-rapid nanopore WGS that combines an optimized sample preparation protocol, distributing sequencing over 48 flow cells, near real-time base calling and alignment, accelerated variant calling and fast variant filtration for efficient manual review.
Diego Balboa, Tom Barsby, Väinö Lithovius, Jonna Saarimäki-Vire, Muhmmad Omar-Hmeadi, Oleg Dyachok, Hossam Montaser, Per-Eric Lund, Mingyu Yang, Hazem Ibrahim, Anna Näätänen, Vikash Chandra, Helena Vihinen, Eija Jokitalo, Jouni Kvist, Jarkko Ustinov, Anni I. Nieminen, Emilia Kuuluvainen, Ville Hietakangas, Pekka Katajisto, Joey Lau, Per-Ola Carlsson, Sebastian Barg, Anders Tengholm & Timo OtonkoskiÂ
doi : 10.1038/s41587-022-01219-z
Transplantation of pancreatic islet cells derived from human pluripotent stem cells is a promising treatment for diabetes. Despite progress in the generation of stem-cell-derived islets (SC-islets), no detailed characterization of their functional properties has been conducted.
Li Yao, Jin Liang, Abdullah Ozer, Alden King-Yung Leung, John T. Lis & Haiyuan YuÂ
doi : 10.1038/s41587-022-01211-7
Mounting evidence supports the idea that transcriptional patterns serve as more specific identifiers of active enhancers than histone marks; however, the optimal strategy to identify active enhancers both experimentally and computationally has not been determined.
Shou-Wen Wang, Michael J. Herriges, Kilian Hurley, Darrell N. Kotton & Allon M. KleinÂ
doi : 10.1038/s41587-022-01209-1
A goal of single-cell genome-wide profiling is to reconstruct dynamic transitions during cell differentiation, disease onset and drug response. Single-cell assays have recently been integrated with lineage tracing, a set of methods that identify cells of common ancestry to establish bona fide dynamic relationships between cell states.
Anton Bankevich, Andrey V. Bzikadze, Mikhail Kolmogorov, Dmitry Antipov & Pavel A. PevznerÂ
doi : 10.1038/s41587-022-01220-6
Although most existing genome assemblers are based on de Bruijn graphs, the construction of these graphs for large genomes and large k-mer sizes has remained elusive.
Simon A. Hardwick, Wen Hu, Anoushka Joglekar, Li Fan, Paul G. Collier, Careen Foord, Jennifer Balacco, Samantha Lanjewar, Maureen McGuirk Sampson, Frank Koopmans, Andrey D. Prjibelski, Alla Mikheenko, Natan Belchikov, Julien Jarroux, Anne Bergstrom Lucas, Miklós Palkovits, Wenjie Luo, Teresa A. Milner, Lishomwa C. Ndhlovu, August B. Smit, John Q. Trojanowski, Virginia M. Y. Lee, Olivier Fedrigo, Steven A. Sloan, …Hagen U. TilgnerÂ
doi : 10.1038/s41587-022-01231-3
Single-nuclei RNA sequencing characterizes cell types at the gene level. However, compared to single-cell approaches, many single-nuclei cDNAs are purely intronic, lack barcodes and hinder the study of isoforms.
Prashant Monian, Chikdu Shivalila, Genliang Lu, Mamoru Shimizu, David Boulay, Karley Bussow, Michael Byrne, Adam Bezigian, Arindom Chatterjee, David Chew, Jigar Desai, Frank Favaloro, Jack Godfrey, Andrew Hoss, Naoki Iwamoto, Tomomi Kawamoto, Jayakanthan Kumarasamy, Anthony Lamattina, Amber Lindsey, Fangjun Liu, Richard Looby, Subramanian Marappan, Jake Metterville, Ronelle Murphy, …Chandra VargeeseÂ
doi : 10.1038/s41587-022-01225-1
Technologies that recruit and direct the activity of endogenous RNA-editing enzymes to specific cellular RNAs have therapeutic potential, but translating them from cell culture into animal models has been challenging.
Khrystyna North, Salima Benbarche, Bo Liu, Joseph Pangallo, Sisi Chen, Maximilian Stahl, Jan Philipp Bewersdorf, Robert F. Stanley, Caroline Erickson, Hana Cho, Jose Mario Bello Pineda, James D. Thomas, Jacob T. Polaski, Andrea E. Belleville, Austin M. Gabel, Dylan B. Udy, Olivier Humbert, Hans-Peter Kiem, Omar Abdel-Wahab & Robert K. BradleyÂ
doi : 10.1038/s41587-022-01224-2
Many cancers carry recurrent, change-of-function mutations affecting RNA splicing factors. Here, we describe a method to harness this abnormal splicing activity to drive splicing factor mutation-dependent gene expression to selectively eliminate tumor cells.
Chloe Hsu, Hunter Nisonoff, Clara Fannjiang & Jennifer ListgartenÂ
Hayden C. Metsky, Nicole L. Welch, Priya P. Pillai, Nicholas J. Haradhvala, Laurie Rumker, Sreekar Mantena, Yibin B. Zhang, David K. Yang, Cheri M. Ackerman, Juliane Weller, Paul C. Blainey, Cameron Myhrvold, Michael Mitzenmacher & Pardis C. SabetiÂ
doi : 10.1038/s41587-022-01213-5
Design of nucleic acid-based viral diagnostics typically follows heuristic rules and, to contend with viral variation, focuses on a genome’s conserved regions. A design process could, instead, directly optimize diagnostic effectiveness using a learned model of sensitivity for targets and their variants.
Masahiko Hirano, Ryoko Ando, Satoshi Shimozono, Mayu Sugiyama, Noriyo Takeda, Hiroshi Kurokawa, Ryusaku Deguchi, Kazuki Endo, Kei Haga, Reiko Takai-Todaka, Shunsuke Inaura, Yuta Matsumura, Hiroshi Hama, Yasushi Okada, Takahiro Fujiwara, Takuya Morimoto, Kazuhiko Katayama & Atsushi MiyawakiÂ
doi : 10.1038/s41587-022-01278-2
The low photostability of fluorescent proteins is a limiting factor in many applications of fluorescence microscopy. Here we present StayGold, a green fluorescent protein (GFP) derived from the jellyfish Cytaeis uchidae.
Hyla Allouche-Arnon, Olga Khersonsky, Nishanth D. Tirukoti, Yoav Peleg, Orly Dym, Shira Albeck, Alexander Brandis, Tevie Mehlman, Liat Avram, Talia Harris, Nirbhay N. Yadav, Sarel J. Fleishman & Amnon Bar-ShirÂ
doi : 10.1038/s41587-021-01162-5
Imaging of gene-expression patterns in live animals is difficult to achieve with fluorescent proteins because tissues are opaque to visible light. Imaging of transgene expression with magnetic resonance imaging (MRI), which penetrates to deep tissues, has been limited by single reporter visualization capabilities.
Brady Huggett & Kathryn PaisnerÂ
Brady Huggett & Kathryn PaisnerÂ
Sybil Wong, Mingke Pan, Allen Shaw & Markus GershaterÂ
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