Contextualising samples: supporting reference genomes of European biodiversity through sample and associated metadata collection

Autor: Astrid Böhne, Rosa Fernández, Jennifer A. Leonard, Ann M. McCartney, Seanna McTaggart, José Melo-Ferreira, Rita Monteiro, Rebekah A. Oomen, Olga Vinnere Pettersson, Torsten H. Struck

Publikováno v: npj Biodiversity, Vol 3, Iss 1, Pp 1-11 (2024)

Abstract The European Reference Genome Atlas (ERGA) consortium aims to generate a reference genome catalogue for all of Europe's eukaryotic biodiversity. The biological material underlying this mission, the specimens and their derived samples, are pr

Externí odkaz: https://doaj.org/article/9eeb5309fcf94527b56e577215880c1d

The complete sequence of a human genome

Autor: Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, Andrey V. Bzikadze, Alla Mikheenko, Mitchell R. Vollger, Nicolas Altemose, Lev Uralsky, Ariel Gershman, Sergey Aganezov, Savannah J. Hoyt, Mark Diekhans, Glennis A. Logsdon, Michael Alonge, Stylianos E. Antonarakis, Matthew Borchers, Gerard G. Bouffard, Shelise Y. Brooks, Gina V. Caldas, Nae-Chyun Chen, Haoyu Cheng, Chen-Shan Chin, William Chow, Leonardo G. de Lima, Philip C. Dishuck, Richard Durbin, Tatiana Dvorkina, Ian T. Fiddes, Giulio Formenti, Robert S. Fulton, Arkarachai Fungtammasan, Erik Garrison, Patrick G. S. Grady, Tina A. Graves-Lindsay, Ira M. Hall, Nancy F. Hansen, Gabrielle A. Hartley, Marina Haukness, Kerstin Howe, Michael W. Hunkapiller, Chirag Jain, Miten Jain, Erich D. Jarvis, Peter Kerpedjiev, Melanie Kirsche, Mikhail Kolmogorov, Jonas Korlach, Milinn Kremitzki, Heng Li, Valerie V. Maduro, Tobias Marschall, Ann M. McCartney, Jennifer McDaniel, Danny E. Miller, James C. Mullikin, Eugene W. Myers, Nathan D. Olson, Benedict Paten, Paul Peluso, Pavel A. Pevzner, David Porubsky, Tamara Potapova, Evgeny I. Rogaev, Jeffrey A. Rosenfeld, Steven L. Salzberg, Valerie A. Schneider, Fritz J. Sedlazeck, Kishwar Shafin, Colin J. Shew, Alaina Shumate, Ying Sims, Arian F. A. Smit, Daniela C. Soto, Ivan Sović, Jessica M. Storer, Aaron Streets, Beth A. Sullivan, Françoise Thibaud-Nissen, James Torrance, Justin Wagner, Brian P. Walenz, Aaron Wenger, Jonathan M. D. Wood, Chunlin Xiao, Stephanie M. Yan, Alice C. Young, Samantha Zarate, Urvashi Surti, Rajiv C. McCoy, Megan Y. Dennis, Ivan A. Alexandrov, Jennifer L. Gerton, Rachel J. O’Neill, Winston Timp, Justin M. Zook, Michael C. Schatz, Evan E. Eichler, Karen H. Miga, Adam M. Phillippy

Publikováno v: Science (New York, N.Y.), vol 376, iss 6588

Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addressing the remaining 8% of the genome, the Telomere-to-Telomere (T2T) Con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57a90349d97678f40cdb370a46304d2d
https://doi.org/10.1126/science.abj6987

An exploration of assembly strategies and quality metrics on the accuracy of the rewarewa ( Knightia excelsa ) genome

Autor: Ann M. McCartney, David Chagné, Joseph Guhlin, Seung-Sub Choi, Gary J. Houliston, Jessica M. Prebble, Elena Hilario, Thomas R. Buckley

Publikováno v: Molecular Ecology Resources

We used long read sequencing data generated from Knightia excelsa, a nectar‐producing Proteaceae tree endemic to Aotearoa (New Zealand), to explore how sequencing data type, volume and workflows can impact final assembly accuracy and chromosome rec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eacab930549bb90062188beaf387a9a
https://doi.org/10.1111/1755-0998.13406

Genome sequence of Pseudopithomyces chartarum, causal agent of facial eczema (pithomycotoxicosis) in ruminants, and identification of the putative sporidesmin toxin gene cluster

Autor: Suresh, Natasha T. Forester, Paul H. Maclean, Sidhu Js, Gavin Lear, Ann M. McCartney, Oliver Mh, Abdul Baten, Ruy Jauregui, Nikola Palevich, Sprosen Jm, Christine R. Voisey

Facial eczema (FE) in grazing ruminants is a debilitating liver syndrome induced by ingestion of sporidesmin, a toxin belonging to the epipolythiodioxopiperazine class of compounds. Sporidesmin is produced in spores of the fungus Pseudopithomyces cha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bbd5a06e33a90aa714af2097c4c93b1c
https://doi.org/10.1101/2021.04.29.441555

Gene Fusions derived by transcriptional readthrough are Driven by Segmental Duplication in Human

Autor: James O. McInerney, Ann M McCartney, Andrew E. Webb, Javier Prado-Martinez, Tomas Marques-Bonet, Julie L Aspden, Mary J. O'Connell, Christopher J. Creevey, Paul Cormican, Edel M. Hyland, Raymond J. Moran, Kate D. Lee, Jessica Hernandez-Rodriguez

Publikováno v: Am, M, Hyland, E M, Cormican, P, Moran, R J, Webb, A E, Lee, K D, Hernandez, J, Prado-Martinez, J, Creevey, C J, Aspden, J L, McInerney, J O, Marques-Bonet, T & Mj, OC 2019, ' Gene Fusions derived by transcriptional readthrough are Driven by Segmental Duplication in Human ', Genome biology and evolution, vol. 11, no. 9, pp. 2678–2690 . https://doi.org/10.1093/gbe/evz163
Genome Biology and Evolution
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Genome biology and evolution
Digital.CSIC. Repositorio Institucional del CSIC
instname
Recercat. Dipósit de la Recerca de Catalunya

Gene fusion occurs when two or more individual genes with independent open reading frames becoming juxtaposed under the same open reading frame creating a new fused gene. A small number of gene fusions described in detail have been associated with no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98e3836d4aafbffa9c87bc8113300e22
https://pure.qub.ac.uk/en/publications/gene-fusions-derived-by-transcriptional-readthrough-are-driven-by-segmental-duplication-in-human(e57c44a1-faea-480e-85a0-012d5a78df6b).html