Zobrazeno 1 - 10
of 99
pro vyhledávání: '"LSDB"'
Autor:
Byrne Myles, Fokkema Ivo FAC, Lancaster Owen, Adamusiak Tomasz, Ahonen-Bishopp Anni, Atlan David, Béroud Christophe, Cornell Michael, Dalgleish Raymond, Devereau Andrew, Patrinos George P, Swertz Morris A, Taschner Peter EM, Thorisson Gudmundur A, Vihinen Mauno, Brookes Anthony J, Muilu Juha
Publikováno v:
BMC Bioinformatics, Vol 13, Iss 1, p 254 (2012)
Abstract Background Sharing of data about variation and the associated phenotypes is a critical need, yet variant information can be arbitrarily complex, making a single standard vocabulary elusive and re-formatting difficult. Complex standards have
Externí odkaz:
https://doaj.org/article/ef3d377fc28f4c09a1c5a1aca6db1776
Autor:
Cassereau Julien, Chevrollier Arnaud, Bonneau Dominique, Verny Christophe, Procaccio Vincent, Reynier Pascal, Ferré Marc
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 87 (2011)
Abstract Background The ganglioside-induced differentiation-associated protein 1 gene (GDAP1), which is involved in the Charcot-Marie-Tooth disease (CMT), the most commonly inherited peripheral neuropathy, encodes a protein anchored to the mitochondr
Externí odkaz:
https://doaj.org/article/12c277d006084025bd0cd84e10d931d6
Akademický článek
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Autor:
Sue Povey, Michael Parker, George P. Patrinos, María-Jesús Sobrido, Ingrid Winship, Richard G.H. Cotton, Aida I. Al Aqeel, Marc S. Greenblatt, Johan T. den Dunnen, Judith Savige, Raymond Dalgleish, Carol Isaacson Barash, Anne Cambon-Thomsen, Helen V. Firth
Publikováno v:
Human Mutation
Human Mutation; Vol 31
Human Mutation, Wiley, 2010, 31 (11), pp.1179. ⟨10.1002/humu.21339⟩
Human Mutation, 31(11), 1179-1184
Human Mutation; Vol 31
Human Mutation, Wiley, 2010, 31 (11), pp.1179. ⟨10.1002/humu.21339⟩
Human Mutation, 31(11), 1179-1184
More than 1,000 Web-based locus-specific variation databases (LSDBs) are listed on the Website of the Human Genetic Variation Society (HGVS). These individual efforts, which often relate phenotype to genotype, are a valuable source of information for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e21823895d5a793c03bfce6b4bf39f8c
https://doi.org/10.1002/humu.21339
https://doi.org/10.1002/humu.21339
Autor:
Arnaud Blanchard, Sylviane Olschwang, Christophe Béroud, Catherine Boileau, Martin Krahn, Aurélie Fabre, Jean-Pierre Desvignes, Morgane Miltgen, Pauline Arnaud, Amélie Pinard, David Salgado, Philippe Grandval, Stéphane Zaffran, Gwenaëlle Collod-Béroud, Laura Barre, Hélène Mathieu
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2016, 37 (12, SI), pp.1299-1307. ⟨10.1002/humu.23112⟩
Human Mutation, 2016, 37 (12, SI), pp.1299-1307. ⟨10.1002/humu.23112⟩
Human Mutation, Wiley, 2016, 37 (12, SI), pp.1299-1307. ⟨10.1002/humu.23112⟩
Human Mutation, 2016, 37 (12, SI), pp.1299-1307. ⟨10.1002/humu.23112⟩
International audience; Adoption of next-generation sequencing (NGS) in a diagnostic context raises numerous questions with regard to identification and reports of secondary variants (SVs) in actionable genes. To better understand the whys and wheref
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::964f69a8c9f1d482456570e5a5d72fdc
https://hal.archives-ouvertes.fr/hal-01469071
https://hal.archives-ouvertes.fr/hal-01469071
Autor:
Celine Guien, Christophe Béroud, Guillaume Jondeau, Stéphane Zaffran, Gwenaëlle Collod-Béroud, Catherine Boileau, Laurence Faivre, David Salgado, Maria Martinez, Amélie Pinard, Nadine Hanna, Pauline Arnaud, Jean-Pierre Desvignes, Ghadi Rai
Publikováno v:
Human Mutation
Human Mutation, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1308-1317. ⟨10.1002/humu.23119⟩
Human Mutation, Wiley, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1308-1317. ⟨10.1002/humu.23119⟩
Human Mutation, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1308-1317. ⟨10.1002/humu.23119⟩
Human Mutation, Wiley, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1308-1317. ⟨10.1002/humu.23119⟩
International audience; High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification of secondary variants for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83f7a4b2ae9ea97367672044723a82a8
https://u-bourgogne.hal.science/hal-01457375
https://u-bourgogne.hal.science/hal-01457375
Autor:
Peter C. van den Akker, Finlay A. Macrae, Katarzyna Wertheim-Tysarowska, Graeme Suthers, Heather J. Howard, Mike Lyne, Arthur L. Beaudet, Vera Gil-da-Silva Lopes, Patrick Willems
Publikováno v:
American Journal of Medical Genetics. Part A, 158A(11), 2763-2766. Wiley
The need for Locus-Specific Databases, with disease-specific experts and curators, is an essential ingredient in a process to enable the benefits of the advances in sequencing and mutational analysis to be realized across the genome. Next generation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7cd2291c501d236c28d69050affa376
https://hdl.handle.net/11370/0f78d657-477c-4885-b9ab-b57ab9aa20fb
https://hdl.handle.net/11370/0f78d657-477c-4885-b9ab-b57ab9aa20fb
Publikováno v:
Human Mutation, 33(2), 298-305
Human Mutation
Human Mutation; Vol 33
Human Mutation
Human Mutation; Vol 33
Information about genetic variation has been collected for some 20 years into registries, known as locus specific databases (LSDBs), which nowadays often contain information in addition to the actual genetic variation. Several issues have to be taken
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2459c08191ee603902150fda911594f9
https://doi.org/10.1002/humu.21646
https://doi.org/10.1002/humu.21646
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Raymond Dalgleish, Anni Ahonen-Bishopp, Gudmundur A. Thorisson, David Atlan, Ivo F.A.C. Fokkema, Peter E.M. Taschner, Owen Lancaster, Juha Muilu, Morris A. Swertz, George P. Patrinos, Mauno Vihinen, Michael Cornell, Christophe Béroud, Andrew Devereau, Tomasz Adamusiak, Anthony J. Brookes, Myles Byrne
Publikováno v:
BMC Bioinformatics
BMC Bioinformatics, 2012, 13 (1), pp.254. ⟨10.1186/1471-2105-13-254⟩
BMC Bioinformatics; 13(254) (2012)
BMC Bioinformatics, 13
BMC Bioinformatics, Vol 13, Iss 1, p 254 (2012)
BMC Bioinformatics; Vol 13
BMC Bioinformatics, BioMed Central, 2012, 13 (1), pp.254. ⟨10.1186/1471-2105-13-254⟩
Bmc Bioinformatics, 13(254):254. BioMed Central Ltd.
BMC Bioinformatics, 2012, 13 (1), pp.254. ⟨10.1186/1471-2105-13-254⟩
BMC Bioinformatics; 13(254) (2012)
BMC Bioinformatics, 13
BMC Bioinformatics, Vol 13, Iss 1, p 254 (2012)
BMC Bioinformatics; Vol 13
BMC Bioinformatics, BioMed Central, 2012, 13 (1), pp.254. ⟨10.1186/1471-2105-13-254⟩
Bmc Bioinformatics, 13(254):254. BioMed Central Ltd.
Background Sharing of data about variation and the associated phenotypes is a critical need, yet variant information can be arbitrarily complex, making a single standard vocabulary elusive and re-formatting difficult. Complex standards have proven to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bcf372c5aec77b186a439e1b3cf9791
https://www.hal.inserm.fr/inserm-00758018
https://www.hal.inserm.fr/inserm-00758018