Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Charlotte Nachtegael"'
Autor:
Nassim Versbraegen, Barbara Gravel, Charlotte Nachtegael, Alexandre Renaux, Emma Verkinderen, Ann Nowé, Tom Lenaerts, Sofia Papadimitriou
Publikováno v:
BMC Bioinformatics, Vol 24, Iss 1, Pp 1-19 (2023)
Abstract Background The prediction of potentially pathogenic variant combinations in patients remains a key task in the field of medical genetics for the understanding and detection of oligogenic/multilocus diseases. Models tailored towards such case
Externí odkaz:
https://doaj.org/article/7976771cac774d558b85ecec69028ce7
Publikováno v:
PLoS ONE, Vol 18, Iss 12 (2023)
Externí odkaz:
https://doaj.org/article/d3e27ff0592a40a59b6bcd5caf083d7a
Autor:
Sofia Papadimitriou, Barbara Gravel, Charlotte Nachtegael, Elfride De Baere, Bart Loeys, Miikka Vikkula, Guillaume Smits, Tom Lenaerts
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100165- (2023)
Summary: Although standards and guidelines for the interpretation of variants identified in genes that cause Mendelian disorders have been developed, this is not the case for more complex genetic models including variant combinations in multiple gene
Externí odkaz:
https://doaj.org/article/d3ecc6ad8c4244848d97af835e35cfb5
Autor:
Charlotte Nachtegael, Barbara Gravel, Arnau Dillen, Guillaume Smits, Ann Nowé, Sofia Papadimitriou, Tom Lenaerts
Publikováno v:
Database. 2022
Improving the understanding of the oligogenic nature of diseases requires access to high-quality, well-curated Findable, Accessible, Interoperable, Reusable (FAIR) data. Although first steps were taken with the development of the Digenic Diseases Dat
Autor:
Nassim Versbraegen, Sonia Van Dooren, Sofia Papadimitriou, Tom Lenaerts, Andrea Gazzo, Ann Nowé, Jan Aerts, Guillaume Smits, Yves Moreau, Charlotte Nachtegael
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 116 (24
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America
Notwithstanding important advances in the context of single-variant pathogenicity identification, novel breakthroughs in discerning the origins of many rare diseases require methods able to identify more complex genetic models. We present here the Va
Autor:
Aziz Fouché, Charlotte Nachtegael, Nassim Versbraegen, Andrea Gazzo, Tom Lenaerts, Guillaume Smits, Sofia Papadimitriou
Publikováno v:
Artificial intelligence in medicine, 99
In order to gain insight into oligogenic disorders, understanding those involving bi-locus variant combinations appears to be key. In prior work, we showed that features at multiple biological scales can already be used to discriminate among two type
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73539aacf1ab853f4dd2e985dad5b65a
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/292462
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/292462
Autor:
Nassim Versbraegen, Sofia Papadimitriou, Alexandre Renaux, Tom Lenaerts, Simon Boutry, Ann Nowé, Charlotte Nachtegael, Guillaume Smits
Publikováno v:
Nucleic Acids Research
Nucleic acids research, 47 (W1
Nucleic acids research, 47 (W1
A tremendous amount of DNA sequencing data is being produced around the world with the ambition to capture in more detail the mechanisms underlying human diseases. While numerous bioinformatics tools exist that allow the discovery of causal variants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::891eaac9efb1e66d143153efa5ee6492
https://zenodo.org/record/4700562
https://zenodo.org/record/4700562
Autor:
Mikio Watanabe, Hideyuki Takeshima, Kyohei Arita, Toru Kawakami, Makoto Nakanishi, Yuichi Mishima, Kohei Takeshita, Laura Brueckner, Akira Shinohara, J. Otani, Charlotte Nachtegael, Norio Sakai, Hironobu Hojo, Kinichi Nakashima, Saori Takahashi, Isao Suetake, Atsuya Nishiyama, Ronald Garingalao Garvilles
Publikováno v:
Genes to cells
Genes to cells, 25
Genes to cells, 25
DNA methylation controls gene expression, and once established, DNA methylation patterns are faithfully copied during DNA replication by the maintenance DNA methyltransferase Dnmt1. In vivo, Dnmt1 interacts with Uhrf1, which recognizes hemimethylated
Autor:
Marcel Geens, Laurence Lagneaux, Karlien Pieters, Laurence de la Kethulle de Ryhove, Céline Vanderplanck, Stephen B Wilton, Alexandra Belayew, Frédérique Coppée, Karen Sermon, Charlotte Nachtegael, Eugénie Ansseau
Publikováno v:
Stem cells and development. 24(22)
Facioscapulohumeral muscular dystrophy (FSHD) is associated with an activation of the double homeobox 4 (DUX4) gene, which we previously identified within the D4Z4 repeated elements in the 4q35 subtelomeric region. The pathological DUX4 mRNA is deriv
Autor:
Sofia Papadimitriou, Andrea Gazzo, Nassim Versbraegen, Charlotte Nachtegael, Jan Aerts, Yves Moreau, Sonia Van Dooren, Ann Nowe, Guillaume Smits, Tom Lenaerts
Publikováno v:
Vrije Universiteit Brussel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::02c5f49af591cd15a2f3af2ae2c75f1e
https://researchportal.vub.be/en/publications/488d9d9e-c416-4532-af87-1e4f58882245
https://researchportal.vub.be/en/publications/488d9d9e-c416-4532-af87-1e4f58882245