Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Hasindu, Gamaarachchi"'
Autor:
Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG •
Externí odkaz:
https://doaj.org/article/efb3c57b4f0d4386a06f31ca1da16fc6
Autor:
Allegra Angeloni, Skye Fissette, Deniz Kaya, Jillian M. Hammond, Hasindu Gamaarachchi, Ira W. Deveson, Robert J. Klose, Weiming Li, Xiaotian Zhang, Ozren Bogdanovic
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)
Abstract DNA methylation (5mC) is a repressive gene regulatory mark widespread in vertebrate genomes, yet the developmental dynamics in which 5mC patterns are established vary across species. While mammals undergo two rounds of global 5mC erasure, te
Externí odkaz:
https://doaj.org/article/83943f03a6ad4793bd6fe36e807c22d8
Autor:
Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/3d3a73f27b2c489eb0df7f7ab3fdcbf8
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract minimap2 is the gold-standard software for reference-based sequence mapping in third-generation long-read sequencing. While minimap2 is relatively fast, further speedup is desirable, especially when processing a multitude of large datasets.
Externí odkaz:
https://doaj.org/article/55e330aefd394de0bed70171e2c324c4
Autor:
Hiruna Samarakoon, James M. Ferguson, Sasha P. Jenner, Timothy G. Amos, Sri Parameswaran, Hasindu Gamaarachchi, Ira W. Deveson
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-12 (2023)
Abstract Nanopore sequencing is being rapidly adopted in genomics. We recently developed SLOW5, a new file format with advantages for storage and analysis of raw signal data from nanopore experiments. Here we introduce slow5tools, an intuitive toolki
Externí odkaz:
https://doaj.org/article/bdedefea4b9f4108a0dc1f3cdbb52fce
Publikováno v:
BMC Bioinformatics, Vol 24, Iss 1, Pp 1-16 (2023)
Abstract Background Nanopore sequencing allows selective sequencing, the ability to programmatically reject unwanted reads in a sample. Selective sequencing has many present and future applications in genomics research and the classification of speci
Externí odkaz:
https://doaj.org/article/1a858e923f664ca9b9415818f592feca
Autor:
Rowena A. Bull, Thiruni N. Adikari, James M. Ferguson, Jillian M. Hammond, Igor Stevanovski, Alicia G. Beukers, Zin Naing, Malinna Yeang, Andrey Verich, Hasindu Gamaarachchi, Ki Wook Kim, Fabio Luciani, Sacha Stelzer-Braid, John-Sebastian Eden, William D. Rawlinson, Sebastiaan J. van Hal, Ira W. Deveson
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-8 (2020)
Nanopore sequencing (ONT) has been used in SARS-CoV-2 studies, however adoption of ONT for SARS-CoV-2 surveillance has been limited due to common concerns around sequencing accuracy. Here, the authors perform a comprehensive evaluation of ONT analyti
Externí odkaz:
https://doaj.org/article/d77df009f76046bb9bfe8be6833f8152
Autor:
Hasindu Gamaarachchi, Chun Wai Lam, Gihan Jayatilaka, Hiruna Samarakoon, Jared T. Simpson, Martin A. Smith, Sri Parameswaran
Publikováno v:
BMC Bioinformatics, Vol 21, Iss 1, Pp 1-13 (2020)
Abstract Background Nanopore sequencing enables portable, real-time sequencing applications, including point-of-care diagnostics and in-the-field genotyping. Achieving these outcomes requires efficient bioinformatic algorithms for the analysis of raw
Externí odkaz:
https://doaj.org/article/caf5b551f39b4e82978c69e8d25661b2
Autor:
Allegra Angeloni, Skye Fissette, Deniz Kaya, Jillian M Hammond, Hasindu Gamaarachchi, Ira W Deveson, Robert J Klose, Weiming Li, Xiaotian Zhang, Ozren Bogdanovic
DNA methylation (5-methylcytosine, 5mC) is a repressive gene regulatory mark widespread in vertebrate genomes, yet the developmental dynamics in which 5mC patterns are established vary across species. While mammals undergo two rounds of global 5mC er
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::973bc1685eae0913a68311b4a84632a4
https://doi.org/10.1101/2023.05.25.542242
https://doi.org/10.1101/2023.05.25.542242
In silicosimulation of next-generation sequencing data is a technique used widely in the genomics field. However, there is currently a lack of optimal tools for creating simulated data from ‘third-generation’ nanopore sequencing devices, which me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0fbd6acf55781f9f45e1105ae722782f
https://doi.org/10.1101/2023.05.09.539953
https://doi.org/10.1101/2023.05.09.539953