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The complete costs of genome sequencing
Katharina Schwarze, James Buchanan, Jilles M Fermont, Helene Dreau, Mark W Tilley, John M Taylor, Pavlos Antoniou, Samantha JL Knight, Carme Camps, Melissa M Pentony, Erika M Kvikstad, Steve Harris, Niko Popitsch, Alistair T Pagnamenta, Anna Schuh, Jenny C Taylor, Sarah Wordsworth
Nov 26, 2019
PURPOSE: The translation of genome sequencing into routine health care has been slow, partly because of concerns about affordability. The aspirational cost of sequencing a genome is $1000, but there is little evidence to support...
The complete costs of genome sequencing
Katharina Schwarze, James Buchanan, Jilles M. Fermont, Helene Dreau, Mark W. Tilley, John M. Taylor, Pavlos Antoniou, Samantha J. L. Knight, Carme Camps, Melissa M. Pentony, Erika M. Kvikstad, Steve Harris, Niko Popitsch, Alistair T. Pagnamenta, Anna Schuh, Jenny C. Taylor, Sarah Wordsworth
Jul 29, 2020
Abstract: Purpose: The translation of genome sequencing into routine health care has been slow, partly because of concerns about affordability. The aspirational cost of sequencing a genome is $1000, but there is little evidence...
Contralateral delay activity, but not alpha lateralization, indexes prioritization of information for working memory storage.
CNN-Based Vessel Meeting Knowledge Discovery From AIS Vessel Trajectories
How to extract a collection of trajectories for different vessels from the raw AIS data to discover vessel meeting knowledge is a heavily studied focus. Here, the AIS database is created based on the raw AIS data after parsing...
Published by: IGI Global Scientific Publishing
Synthesis of organometallic pentalenide complexes
While a number of reports have established the unique structures and electronic properties of mono- and dinuclear pentalenide complexes of s, p, d and f block elements, access to these intriguing compounds is restricted by...
Synthesis of organometallic pentalenide complexes
While a number of reports have established the unique structures and electronic properties of mono- and dinuclear pentalenide complexes of s, p, d and f block elements, access to these intriguing compounds is restricted by...
Unstructured regions in IRE1α specify BiP-mediated destabilisation of the luminal domain dimer and repression of the UPR.
BiP/GRP78 Chinese Hamster Ovary (CHO) cells E. coli ERdj4/DNAJB9 ire1 Cell Biology endoplasmic reticulum (ER) Unfolded Protein Response (UPR) Animals CHO Cells Cricetinae Cricetulus Endoplasmic Reticulum Endoplasmic Reticulum Chaperone BiP Endoplasmic reticulum stress Endoribonucleases Escherichia coli HSP40 Heat-Shock Proteins HSP70 Heat-Shock Proteins Humans Membrane Proteins Molecular Chaperones Protein Binding Protein Conformation Protein Multimerization Protein Serine-Threonine Kinases Unfolded Protein Response
A J-Protein Co-chaperone Recruits BiP to Monomerize IRE1 and Repress the Unfolded Protein Response.
Niko Amin-Wetzel, Reuben A Saunders, Maarten J Kamphuis, Claudia Rato, Steffen Preissler, Heather P Harding, David Ron
Jun 08, 2018
When unfolded proteins accumulate in the endoplasmic reticulum (ER), the unfolded protein response (UPR) increases ER-protein-folding capacity to restore protein-folding homeostasis. Unfolded proteins activate UPR signaling...
Allosteric Regulation Biological Feedback Endoplasmic Reticulum Fluorescence Resonance Energy Transfer HSP70 Heat-Shock Proteins Protein Dimerization Protein Folding Repressor Protein Stress Unfolded Protein Response Animals Cricetinae Endoplasmic Reticulum Endoplasmic Reticulum Chaperone BiP Endoribonucleases HSP40 Heat-Shock Proteins HEAT-SHOCK PROTEINS Humans Membrane Proteins Molecular Chaperones Protein Folding Protein Serine-Threonine Kinases Unfolded Protein Response
Surveillance of SARS-CoV-2 in Frankfurt am Main from October to December 2020 Reveals High Viral Diversity Including Spike Mutation N501Y in B.1.1.70 and B.1.1.7.
Marek Widera, Barbara Mühlemann, Victor M Corman, Tuna Toptan, Jörn Beheim-Schwarzbach, Niko Kohmer, Julia Schneider, Annemarie Berger, Talitha Veith, Christiane Pallas, Tobias Bleicker, Udo Goetsch, Julia Tesch, Rene Gottschalk, Terry C Jones, Sandra Ciesek, Christian Drosten
May 03, 2021
BACKGROUND: International travel is a major driver of the introduction and spread of SARS-CoV-2. AIM: To investigate SARS-CoV-2 genetic diversity in the region of a major transport hub in Germany, we characterized the viral...
The International Virus Bioinformatics Meeting 2020.
Franziska Hufsky, Niko Beerenwinkel, Irmtraud M Meyer, Simon Roux, Georgia May Cook, Cormac M Kinsella, Kevin Lamkiewicz, Mike Marquet, David F Nieuwenhuijse, Ingrida Olendraite, Sofia Paraskevopoulou, Francesca Young, Ronald Dijkman, Bashar Ibrahim, Jenna Kelly, Philippe Le Mercier, Manja Marz, Alban Ramette, Volker Thiel
Feb 22, 2021
The International Virus Bioinformatics Meeting 2020 was originally planned to take place in Bern, Switzerland, in March 2020. However, the COVID-19 pandemic put a spoke in the wheel of almost all conferences to be held in 2020....
Genomic signatures of human and animal disease in the zoonotic pathogen Streptococcus suis.
Lucy A Weinert, Roy R Chaudhuri, Jinhong Wang, Sarah E Peters, Jukka Corander, Thibaut Jombart, Abiyad Baig, Kate J Howell, Minna Vehkala, Niko Välimäki, David Harris, Tran Thi Bich Chieu, Nguyen Van Vinh Chau, James Campbell, Constance Schultsz, Julian Parkhill, Stephen D Bentley, Paul R Langford, Andrew N Rycroft, Brendan W Wren, Jeremy Farrar, Stephen Baker, Ngo Thi Hoa, Matthew TG Holden, Alexander W Tucker, Duncan J Maskell, BRaDP1T Consortium
Apr 30, 2015
Eleven grand challenges in single-cell data science.
David Lähnemann, Johannes Köster, Ewa Szczurek, Davis J McCarthy, Stephanie C Hicks, Mark D Robinson, Catalina A Vallejos, Kieran R Campbell, Niko Beerenwinkel, Ahmed Mahfouz, Luca Pinello, Pavel Skums, Alexandros Stamatakis, Camille Stephan-Otto Attolini, Samuel Aparicio, Jasmijn Baaijens, Marleen Balvert, Buys de Barbanson, Antonio Cappuccio, Giacomo Corleone, Bas E Dutilh, Maria Florescu, Victor Guryev, Rens Holmer, Katharina Jahn, Thamar Jessurun Lobo, Emma M Keizer, Indu Khatri, Szymon M Kielbasa, Jan O Korbel, Alexey M Kozlov, Tzu-Hao Kuo, Boudewijn PF Lelieveldt, Ion I Mandoiu, John C Marioni, Tobias Marschall, Felix Mölder, Amir Niknejad, Lukasz Raczkowski, Marcel Reinders, Jeroen de Ridder, Antoine-Emmanuel Saliba, Antonios Somarakis, Oliver Stegle, Fabian J Theis, Huan Yang, Alex Zelikovsky, Alice C McHardy, Benjamin J Raphael, Sohrab P Shah, Alexander Schönhuth
Feb 06, 2021
The recent boom in microfluidics and combinatorial indexing strategies, combined with low sequencing costs, has empowered single-cell sequencing technology. Thousands-or even millions-of cells analyzed in a single experiment...
Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.
Johanna Kondelin, Kari Salokas, Lilli Saarinen, Kristian Ovaska, Heli Rauanheimo, Roosa-Maria Plaketti, Jiri Hamberg, Xiaonan Liu, Leena Yadav, Alexandra E Gylfe, Tatiana Cajuso, Ulrika A Hänninen, Kimmo Palin, Heikki Ristolainen, Riku Katainen, Eevi Kaasinen, Tomas Tanskanen, Mervi Aavikko, Minna Taipale, Jussi Taipale, Laura Renkonen-Sinisalo, Anna Lepistö, Selja Koskensalo, Jan Böhm, Jukka-Pekka Mecklin, Halit Ongen, Emmanouil T Dermitzakis, Outi Kilpivaara, Pia Vahteristo, Mikko Turunen, Sampsa Hautaniemi, Sari Tuupanen, Auli Karhu, Niko Välimäki, Markku Varjosalo, Esa Pitkänen, Lauri A Aaltonen
Jun 05, 2019
Microsatellite instability (MSI) leads to accumulation of an excessive number of mutations in the genome, mostly small insertions and deletions. MSI colorectal cancers (CRCs), however, also contain more point mutations than...
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition
Na Li, Magnus Zethoven, Simone McInerny, Lisa Devereux, Yu-Kuan Huang, Niko Thio, Dane Cheasley, Sara Gutiérrez-Enríquez, Alejandro Moles-Fernández, Orland Diez, Tu Nguyen-Dumont, Melissa C Southey, John L Hopper, Jacques Simard, Martine Dumont, Penny Soucy, Alfons Meindl, Rita Schmutzler, Marjanka K Schmidt, Muriel A Adank, Irene L Andrulis, Eric Hahnen, Christoph Engel, Fabienne Lesueur, Elodie Girard, Susan L Neuhausen, Elad Ziv, Jamie Allen, Douglas F Easton, Rodney J Scott, Kylie L Gorringe, Paul A James, Ian G Campbell
Jun 13, 2021
Bi-allelic loss-of-function (LoF) variants in the base excision repair (BER) gene NTHL1 cause a high-risk hereditary multi-tumor syndrome that includes breast cancer, but the contribution of heterozygous variants to hereditary...
Published by: NPJ breast cancer
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition
Na Li, Magnus Zethoven, Simone McInerny, Lisa Devereux, Yu-Kuan Huang, Niko Thio, Dane Cheasley, Sara Gutiérrez-Enríquez, Alejandro Moles-Fernández, Orland Diez, Tu Nguyen-Dumont, Melissa C Southey, John L Hopper, Jacques Simard, Martine Dumont, Penny Soucy, Alfons Meindl, Rita Schmutzler, Marjanka K Schmidt, Muriel A Adank, Irene L Andrulis, Eric Hahnen, Christoph Engel, Fabienne Lesueur, Elodie Girard, Susan L Neuhausen, Elad Ziv, Jamie Allen, Douglas F Easton, Rodney J Scott, Kylie L Gorringe, Paul A James, Ian G Campbell
May 19, 2021
Bi-allelic loss-of-function (LoF) variants in the base excision repair (BER) gene NTHL1 cause a high-risk hereditary multi-tumor syndrome that includes breast cancer, but the contribution of heterozygous variants to hereditary...
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition
Na Li, Magnus Zethoven, Simone McInerny, Lisa Devereux, Yu-Kuan Huang, Niko Thio, Dane Cheasley, Sara Gutiérrez-Enríquez, Alejandro Moles-Fernández, Orland Diez, Tu Nguyen-Dumont, Melissa C. Southey, John L. Hopper, Jacques Simard, Martine Dumont, Penny Soucy, Alfons Meindl, Rita Schmutzler, Marjanka K. Schmidt, Muriel A. Adank, Irene L. Andrulis, Eric Hahnen, Christoph Engel, Fabienne Lesueur, Elodie Girard, Susan L. Neuhausen, Elad Ziv, Jamie Allen, Douglas F. Easton, Rodney J. Scott, Kylie L. Gorringe, Paul A. James, Ian G. Campbell
May 12, 2021
Abstract: Bi-allelic loss-of-function (LoF) variants in the base excision repair (BER) gene NTHL1 cause a high-risk hereditary multi-tumor syndrome that includes breast cancer, but the contribution of heterozygous variants to...
Eleven grand challenges in single-cell data science.
David Lähnemann, Johannes Köster, Ewa Szczurek, Davis J McCarthy, Stephanie C Hicks, Mark D Robinson, Catalina A Vallejos, Kieran R Campbell, Niko Beerenwinkel, Ahmed Mahfouz, Luca Pinello, Pavel Skums, Alexandros Stamatakis, Camille Stephan-Otto Attolini, Samuel Aparicio, Jasmijn Baaijens, Marleen Balvert, Buys de Barbanson, Antonio Cappuccio, Giacomo Corleone, Bas E Dutilh, Maria Florescu, Victor Guryev, Rens Holmer, Katharina Jahn, Thamar Jessurun Lobo, Emma M Keizer, Indu Khatri, Szymon M Kielbasa, Jan O Korbel, Alexey M Kozlov, Tzu-Hao Kuo, Boudewijn P F Lelieveldt, Ion I Mandoiu, John C Marioni, Tobias Marschall, Felix Mölder, Amir Niknejad, Lukasz Raczkowski, Marcel Reinders, Jeroen de Ridder, Antoine-Emmanuel Saliba, Antonios Somarakis, Oliver Stegle, Fabian J Theis, Huan Yang, Alex Zelikovsky, Alice C McHardy, Benjamin J Raphael, Sohrab P Shah, Alexander Schönhuth
Mar 10, 2020
The recent boom in microfluidics and combinatorial indexing strategies, combined with low sequencing costs, has empowered single-cell sequencing technology. Thousands-or even millions-of cells analyzed in a single experiment...
Published by: Genome biology
Contribution of allelic imbalance to colorectal cancer.
Kimmo Palin, Esa Pitkänen, Mikko Turunen, Biswajyoti Sahu, Päivi Pihlajamaa, Teemu Kivioja, Eevi Kaasinen, Niko Välimäki, Ulrika A Hänninen, Tatiana Cajuso, Mervi Aavikko, Sari Tuupanen, Outi Kilpivaara, Linda van den Berg, Johanna Kondelin, Tomas Tanskanen, Riku Katainen, Marta Grau, Heli Rauanheimo, Roosa-Maria Plaketti, Aurora Taira, Päivi Sulo, Tuomo Hartonen, Kashyap Dave, Bernhard Schmierer, Sandeep Botla, Maria Sokolova, Anna Vähärautio, Kornelia Gladysz, Halit Ongen, Emmanouil Dermitzakis, Jesper Bertram Bramsen, Torben Falck Ørntoft, Claus Lindbjerg Andersen, Ari Ristimäki, Anna Lepistö, Laura Renkonen-Sinisalo, Jukka-Pekka Mecklin, Jussi Taipale, Lauri A Aaltonen
Jun 04, 2019
Point mutations in cancer have been extensively studied but chromosomal gains and losses have been more challenging to interpret due to their unspecific nature. Here we examine high-resolution allelic imbalance (AI) landscape in...
Allelic Imbalance CRISPR-Cas Systems Chromosome Aberrations Chromosomes Human Pair 8 Colorectal Neoplasms DNA Copy Number Variations Denmark Gene Expression Profiling Genetic Predisposition to Disease Genomics Genotype Humans Loss of Heterozygosity Microsatellite Repeats Phenotype Point Mutation Proto-Oncogene Proteins p21(ras) RNA Small Interfering Transcription Factors Tumor Suppressor Protein p53 whole genome sequencing
The Sustainable Materials Roadmap
Maria-Magdalena Titirici, Sterling Baird, Taylor Sparks, Shirley M Yang, Agi Brandt-Talbot, Omid Hosseinaei, David Paul Harper, Richard Parker, Silvia Vignolini, Lars Berglund, Yuanyuan Li, Huai-Ling Gao, Li-Bo Mao, Shuhong Yu, Noel Díez, Guillermo Alvarez.ferrero, Marta Sevilla Solis, Petra Szilagyi, Connor Stubbs, Joshua Worch, Yunping Huang, Christine Luscombe, Koon-yang Lee, Hui Luo, Jim Platts, Devendra Tiwari, Dmitry Kovalevskiy, David Fermin, Heather Au, Hande Alptekin, Maria Crespo Ribadeneyra, Valeska Ting, Tim-Patrick Fellinger, Jesus Barrio-hermida, Olivia Westhead, Claudie Roy, Ifan Stephens, Sabina Alexandra Nicolae, Saurav Sarma, Rose Oates, Chen Gang Wang, Zibiao Li, Xian Jun Loh, Rupert J Myers, Niko Heeren, Alice Grégoire, Clément Périssé, Xiaoying Zhao, Yael Vodovotz, Becky Earley, Goran Finnveden, Anna Björklund, Gavin Harper, Allan Walton, Paul A Anderson
Aug 09, 2022
Eleven grand challenges in single-cell data science
David Lähnemann, Johannes Köster, Ewa Szczurek, Davis J. McCarthy, Stephanie C. Hicks, Mark D. Robinson, Catalina A. Vallejos, Kieran R. Campbell, Niko Beerenwinkel, Ahmed Mahfouz, Luca Pinello, Pavel Skums, Alexandros Stamatakis, Camille Stephan-Otto Attolini, Samuel Aparicio, Jasmijn Baaijens, Marleen Balvert, Buys de Barbanson, Antonio Cappuccio, Giacomo Corleone, Bas E. Dutilh, Maria Florescu, Victor Guryev, Rens Holmer, Katharina Jahn, Thamar Jessurun Lobo, Emma M. Keizer, Indu Khatri, Szymon M. Kielbasa, Jan O. Korbel, Alexey M. Kozlov, Tzu-Hao Kuo, Boudewijn P.F. Lelieveldt, Ion I. Mandoiu, John C. Marioni, Tobias Marschall, Felix Mölder, Amir Niknejad, Lukasz Raczkowski, Marcel Reinders, Jeroen de Ridder, Antoine-Emmanuel Saliba, Antonios Somarakis, Oliver Stegle, Fabian J. Theis, Huan Yang, Alex Zelikovsky, Alice C. McHardy, Benjamin J. Raphael, Sohrab P. Shah, Alexander Schönhuth
Jun 06, 2020
Abstract: The recent boom in microfluidics and combinatorial indexing strategies, combined with low sequencing costs, has empowered single-cell sequencing technology. Thousands—or even millions—of cells analyzed in a single...
The Sustainable Materials Roadmap
Maria-Magdalena Titirici, Sterling Baird, Taylor Sparks, Shirley M Yang, Agi Brandt-Talbot, Omid Hosseinaei, David Paul Harper, Richard Parker, Silvia Vignolini, Lars Berglund, Yuanyuan Li, Huai-Ling Gao, Li-Bo Mao, Shuhong Yu, Noel Díez, Guillermo Alvarez.ferrero, Marta Sevilla Solis, Petra Szilagyi, Connor Stubbs, Joshua Worch, Yunping Huang, Christine Luscombe, Koon-yang Lee, Hui Luo, Jim Platts, Devendra Tiwari, Dmitry Kovalevskiy, David Fermin, Heather Au, Hande Alptekin, Maria Crespo Ribadeneyra, Valeska Ting, Tim-Patrick Fellinger, Jesus Barrio-hermida, Olivia Westhead, Claudie Roy, Ifan Stephens, Sabina Alexandra Nicolae, Saurav Sarma, Rose Oates, Chen Gang Wang, Zibiao Li, Xian Jun Loh, Rupert J Myers, Niko Heeren, Alice Grégoire, Clément Périssé, Xiaoying Zhao, Yael Vodovotz, Becky Earley, Goran Finnveden, Anna Björklund, Gavin Harper, Allan Walton, Paul A Anderson
Aug 04, 2022
The sustainable materials roadmap
Magda Titirici, Sterling G Baird, Taylor D Sparks, Shirley Min Yang, Agnieszka Brandt-Talbot, Omid Hosseinaei, David P Harper, Richard M Parker, Silvia Vignolini, Lars A Berglund, Yuanyuan Li, Huai-Ling Gao, Li-Bo Mao, Shu-Hong Yu, Noel Díez, Guillermo A Ferrero, Marta Sevilla, Petra Ágota Szilágyi, Connor J Stubbs, Joshua C Worch, Yunping Huang, Christine K Luscombe, Koon-yang Lee, Hui Luo, M J Platts, Devendra Tiwari, Dmitry Kovalevskiy, David J Fermin, Heather Au, Hande Alptekin, Maria Crespo-Ribadeneyra, Valeska P Ting, Tim-Patrick Fellinger, Jesús Barrio, Olivia Westhead, Claudie Roy, Ifan E L Stephens, Sabina Alexandra Nicolae, Saurav Ch Sarma, Rose P Oates, Chen-Gang Wang, Zibiao Li, Xian Jun Loh, Rupert J Myers, Niko Heeren, Alice Grégoire, Clément Périssé, Xiaoying Zhao, Yael Vodovotz, Becky Earley, Göran Finnveden, Anna Björklund, Gavin D J Harper, Allan Walton, Paul A Anderson
Aug 04, 2022
Abstract: Over the past 150 years, our ability to produce and transform engineered materials has been responsible for our current high standards of living, especially in developed economies. However, we must carefully think of...
Published by: IOP Publishing