Zobrazeno 1 - 10
of 116
pro vyhledávání: '"Martin C. Frith"'
Autor:
Mathys Grapotte, Manu Saraswat, Chloé Bessière, Christophe Menichelli, Jordan A. Ramilowski, Jessica Severin, Yoshihide Hayashizaki, Masayoshi Itoh, Michihira Tagami, Mitsuyoshi Murata, Miki Kojima-Ishiyama, Shohei Noma, Shuhei Noguchi, Takeya Kasukawa, Akira Hasegawa, Harukazu Suzuki, Hiromi Nishiyori-Sueki, Martin C. Frith, FANTOM consortium, Clément Chatelain, Piero Carninci, Michiel J. L. de Hoon, Wyeth W. Wasserman, Laurent Bréhélin, Charles-Henri Lecellier
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
Mammalian genomes are scattered with repetitive sequences, but their biology remains largely elusive. Here, the authors show that transcription can initiate from short tandem repetitive sequences, and that genetic variants linked to human diseases ar
Externí odkaz:
https://doaj.org/article/2414817241b342aaa3ae4af0ca7b56ad
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
Abstract Background Tandem repeats are highly mutable and contribute to the development of human disease by a variety of mechanisms. It is difficult to predict which tandem repeats may cause a disease. One hypothesis is that changeable tandem repeats
Externí odkaz:
https://doaj.org/article/d4df2ba35f544696b270840584726362
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-17 (2020)
Abstract Background Many genetic/genomic disorders are caused by genomic rearrangements. Standard methods can often characterize these variations only partly, e.g., copy number changes or breakpoints. It is important to fully understand the order and
Externí odkaz:
https://doaj.org/article/2364849c6ba24efbbb696e2dba1b8e82
Autor:
Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi, Satoko Miyatake, Tomoko Toyota, Hiroaki Adachi, Yoko Oma, Yoshihiro Kino, Hiroaki Mitsuhashi, Naomichi Matsumoto
Publikováno v:
Genome Biology, Vol 20, Iss 1, Pp 1-17 (2019)
Abstract Tandemly repeated DNA is highly mutable and causes at least 31 diseases, but it is hard to detect pathogenic repeat expansions genome-wide. Here, we report robust detection of human repeat expansions from careful alignments of long but error
Externí odkaz:
https://doaj.org/article/375652e5b6a34ae1afdfc702a64030a5
Autor:
Mathys Grapotte, Manu Saraswat, Chloé Bessière, Christophe Menichelli, Jordan A. Ramilowski, Jessica Severin, Yoshihide Hayashizaki, Masayoshi Itoh, Michihira Tagami, Mitsuyoshi Murata, Miki Kojima-Ishiyama, Shohei Noma, Shuhei Noguchi, Takeya Kasukawa, Akira Hasegawa, Harukazu Suzuki, Hiromi Nishiyori-Sueki, Martin C. Frith, FANTOM consortium, Clément Chatelain, Piero Carninci, Michiel J. L. de Hoon, Wyeth W. Wasserman, Laurent Bréhélin, Charles-Henri Lecellier
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/14293c7d029a44079ad009ca25c6c174
Publikováno v:
BMC Medical Genomics, Vol 11, Iss S2, Pp 1-10 (2018)
Abstract Background Reliable detection of genome variations, especially insertions and deletions (indels), from single sample DNA sequencing data remains challenging, partially due to the inherent uncertainty involved in aligning sequencing reads to
Externí odkaz:
https://doaj.org/article/33d84f72a3fb40bc8bd4b5e9e20835bc
Autor:
Martin C. Frith, Satomi Mitsuhashi
Publikováno v:
Methods in Molecular Biology ISBN: 9781071629956
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::068fe2a1008438f941700f2a95c1bb6b
https://doi.org/10.1007/978-1-0716-2996-3_12
https://doi.org/10.1007/978-1-0716-2996-3_12
Motivation Retroviruses are important contributors to disease and evolution in vertebrates. Sometimes, retrovirus DNA is heritably inserted in a vertebrate genome: an endogenous retrovirus (ERV). Vertebrate genomes have many such virus-derived fragme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad76afdfa414a02d0245b0d500a38b45
https://doi.org/10.1101/2022.11.04.515135
https://doi.org/10.1101/2022.11.04.515135
We face an increasing flood of genetic sequence data, from diverse sources, requiring rapid computational analysis. Rapid analysis can be achieved by sampling a subset of positions in each sequence. Previous sequence-sampling methods, such as minimiz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c16a8e870f75ea1024dbafdd73cb8ed
https://doi.org/10.1101/2022.08.18.504476
https://doi.org/10.1101/2022.08.18.504476
Autor:
Grigorios Koulouras, Martin C. Frith
Publikováno v:
Nucleic Acids Research
Minimal absent words (MAWs) are minimal-length oligomers absent from a genome or proteome. Although some artificially synthesized MAWs have deleterious effects, there is still a lack of a strategy for the classification of non-occurring sequences as