Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Felix Schlesinger"'
Autor:
Sai Chen, Peter Krusche, Egor Dolzhenko, Rachel M. Sherman, Roman Petrovski, Felix Schlesinger, Melanie Kirsche, David R. Bentley, Michael C. Schatz, Fritz J. Sedlazeck, Michael A. Eberle
Publikováno v:
Genome Biology, Vol 20, Iss 1, Pp 1-13 (2019)
Abstract Accurate detection and genotyping of structural variations (SVs) from short-read data is a long-standing area of development in genomics research and clinical sequencing pipelines. We introduce Paragraph, an accurate genotyper that models SV
Externí odkaz:
https://doaj.org/article/4463a5c77f524054a521bee24d045f6e
Autor:
Courtney E. French, Konrad Scheffler, Andrew M. Gross, Giuseppe Narzisi, Bryan R. Lajoie, Joke J.F.A. van Vugt, Sai Chen, Lucy Raymond, David R. Bentley, Roman Petrovski, Peter Krusche, Ryan J. Taft, Alba Sanchis-Juan, Felix Schlesinger, Dorothea Emig-Agius, Egor Dolzhenko, Kristina Ibáñez, Brett Bowman, Jan H. Veldink, Arianna Tucci, Viraj Deshpande, Michael A. Eberle
Publikováno v:
Bioinformatics
Summary We describe a novel computational method for genotyping repeats using sequence graphs. This method addresses the long-standing need to accurately genotype medically important loci containing repeats adjacent to other variants or imperfect DNA
Autor:
Anne Jager, Lisa Way, Joe Varlaro, Paulina Walichiewicz, Stephanie J. K. Pond, Michelle L. Alvarez, David Silva, Kathryn M. Stephens, Nguyen Pham, Ernesto Guzmán, Yonmee Han, Cydne Holt, Jocelyne Bruand, Glorianna Caves, Felix Schlesinger, Carey Davis
Publikováno v:
Forensic Science International: Genetics. 28:52-70
Human DNA profiling using PCR at polymorphic short tandem repeat (STR) loci followed by capillary electrophoresis (CE) size separation and length-based allele typing has been the standard in the forensic community for over 20 years. Over the last dec
Autor:
Melanie Kirsche, Felix Schlesinger, Roman Petrovski, Michael C. Schatz, Fritz J. Sedlazeck, Peter Krusche, Michael A. Eberle, Rachel M. Sherman, David R. Bentley, Egor Dolzhenko, Sai Chen
Publikováno v:
Genome Biology
Genome Biology, Vol 20, Iss 1, Pp 1-13 (2019)
Genome Biology, Vol 20, Iss 1, Pp 1-13 (2019)
Accurate detection and genotyping of structural variations (SVs) from short-read data is a long-standing area of development in genomics research and clinical sequencing pipelines. We introduce Paragraph, a fast and accurate genotyper that models SVs
Autor:
Amy K. Kim, Robert A. Anders, Felix Schlesinger, Ahmet Gurakar, Zhixiong Wang, Yulan Cheng, Carlos Villacorta-Martin, Behnam Saberi, Shunichi Tsuge, James P. Hamilton, Harry Luu, John M. Abraham, Benjamin Philosophe, Stephen J. Meltzer, Qingfeng Zhu, Florin M. Selaru, Andrew M. Cameron, Maria D. Ybanez
Publikováno v:
Gastrointest Tumors
Background: Hepatocellular carcinoma (HCC) is now the second-highest cause of cancer death worldwide. Recent studies have discovered a wide range of somatic mutations in HCC. These mutations involve various vital signaling pathways such as: Wnt/β-Ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d2167b967c5624280a19d5131e06312
https://europepmc.org/articles/PMC6738276/
https://europepmc.org/articles/PMC6738276/
Autor:
Felix Schlesinger, Peter Krusche, Michael A. Eberle, Andrew M. Gross, Courtney E. French, Konrad Scheffler, Sai Chen, Ryan J. Taft, Joke J.F.A. van Vugt, Lucy Raymond, Dorothea Emig-Agius, Roman Petrovski, Jan H. Veldink, Viraj Deshpande, David R. Bentley, Egor Dolzhenko, Bryan R. Lajoie, Giuseppe Narzisi, Brett Bowman, Kristina Ibáñez, Alba Sanchis-Juan, Arianna Tucci
SummaryWe describe a novel computational method for genotyping repeats using sequence graphs. This method addresses the long-standing need to accurately genotype medically important loci containing repeats adjacent to other variants or imperfect DNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fed556e19721864b3b23e96b33497117
https://doi.org/10.1101/572545
https://doi.org/10.1101/572545
Autor:
Gang Fang, LaDeana W. Hillier, Brenton R. Graveley, Ali Mortazavi, Norbert Perrimon, Nathan Boley, Jingyi Jessica Li, William C. Spencer, James B. Brown, Chau Huynh, Roger A. Hoskins, Mark Gerstein, Ann S. Hammonds, Sarah Djebali, Sonali Jha, Kenneth H. Wan, Cédric Howald, Raymond K. Auerbach, Chenghai Xue, Haiyan Huang, Jorg Drenkow, Elise A. Feingold, Julien Lagarde, Daifeng Wang, Dmitri D. Pervouchine, Thomas R. Gingeras, Guilin Wang, Peter Cherbas, Brent Ewing, Chao Di, Gary Saunders, Benjamin W. Booth, Joel Rozowsky, Yan Zhang, Anastasia Samsonova, Dionna M. Kasper, Cristina Sisu, Marcus H. Stoiber, Jiayu Wen, Michael O. Duff, Felix Schlesinger, Gennifer E. Merrihew, Sara Olson, Susan E. Celniker, Burak H. Alver, Chao Cheng, Gemma E. May, Alexandre Reymond, Carrie A. Davis, Alexander Dobin, Max E. Boeck, Roger P. Alexander, Michael J. Pazin, Peter J. Park, Adam Frankish, Lucy Cherbas, Zhi Lu, Kevin Y. Yip, Henry Zheng, Owen Thompson, Jing Leng, Kathie L. Watkins, Andrea Tanzer, Valerie Reinke, Rebecca McWhirter, Eric C. Lai, Steven E. Brenner, Robert H. Waterston, Koon-Kiu Yan, Masaomi Kato, Roderic Guigó, Huaien Wang, Kimberly Bell, Pnina Strasbourger, Baikang Pei, Jen Harrow, Long Hu, Chris Zaleski, Rabi Murad, Thomas C. Kaufman, Erik Ladewig, Robert R. Kitchen, Anurag Sethi, Kejia Wen, Guanjun Gao, Arif Harmanci, Megan Fastuca, Brian Oliver, Frank J. Slack, David M. Miller, Tim Hubbard, Garrett Robinson, Peter J. Good, Peter J. Bickel, Michael J. MacCoss, Li Yang
Publikováno v:
Nature
Recercat. Dipósit de la Recerca de Catalunya
instname
NATURE
Nature, vol 512, iss 7515
Nature, vol. 512, no. 7515, pp. 445-448
Recercat. Dipósit de la Recerca de Catalunya
instname
NATURE
Nature, vol 512, iss 7515
Nature, vol. 512, no. 7515, pp. 445-448
The transcriptome is the readout of the genome. Identifying common features in it across distant species can reveal fundamental principles. To this end, the ENCODE and modENCODE consortia have generated large amounts of matched RNA-sequencing data fo
Autor:
Renhua Li, Thomas R. Gingeras, Yu Zhang, Lichun Jiang, Marc L. Salit, Brian Oliver, Carrie A. Davis, Felix Schlesinger
Publikováno v:
Genome Research. 21:1543-1551
High-throughput sequencing of cDNA (RNA-seq) is a widely deployed transcriptome profiling and annotation technique, but questions about the performance of different protocols and platforms remain. We used a newly developed pool of 96 synthetic RNAs w
Autor:
Anthony J. Cox, Semyon Kruglyak, Felix Schlesinger, Richard Shaw, Xiaoyu Chen, Ole Schulz-Trieglaff, Christopher T. Saunders, Bret Barnes
Summary: We describe Manta, a method to discover structural variants and indels from next generation sequencing data. Manta is optimized for rapid clinical analysis, calling structural variants, medium-sized indels and large insertions on standard co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c384c9e87e2a9699042ff5f0ebec01b
Autor:
Anthony J. Cox, Bret Barnes, Felix Schlesinger, Xiaoyu Chen, Ole Schulz-Trieglaff, Semyon Kruglyak, Morten Källberg, Christopher T. Saunders, Richard Shaw
Publikováno v:
Bioinformatics (Oxford, England). 32(8)
Summary: We describe Manta, a method to discover structural variants and indels from next generation sequencing data. Manta is optimized for rapid germline and somatic analysis, calling structural variants, medium-sized indels and large insertions on