Zobrazeno 1 - 10
of 49
pro vyhledávání: '"gene–disease relationship"'
Publikováno v:
BMC Bioinformatics, Vol 25, Iss 1, Pp 1-21 (2024)
Abstract Background Thousands of genes have been associated with different Mendelian conditions. One of the valuable sources to track these gene-disease associations (GDAs) is the Online Mendelian Inheritance in Man (OMIM) database. However, most of
Externí odkaz:
https://doaj.org/article/7aefc60d39234aef92cb47ca135280c8
Akademický článek
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Autor:
Amanda R. Clause, Julie P. Taylor, Revathi Rajkumar, Krista Bluske, Maren Bennett, Laura M. Amendola, David R. Bentley, Ryan J. Taft, Denise L. Perry, Alison J. Coffey, Carolyn Brown, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Katie Golden-Grant, Akanchha Kesari, Alka Malhotra, Becky Milewski, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Brittany Thomas, Erin Thorpe
Publikováno v:
Cell Genomics, Vol 3, Iss 2, Pp 100258- (2023)
Summary: Current standards in clinical genetics recognize the need to establish the validity of gene-disease relationships as a first step in the interpretation of sequence variants. We describe our experience incorporating the ClinGen Gene-Disease C
Externí odkaz:
https://doaj.org/article/4617a18d8ea746a9a7fa08a4e35b6389
Autor:
Emir Zonic, Mariana Ferreira, Luba M. Pardo, Javier Martini, Maria Eugenia Rocha, Ruxandra Aanicai, Natalia Ordonez-Herrera, Deepa Saravanakumar, Ligia S. Almeida, Inês C. Fernandes, Nishtha Gulati, Sumanth Mannepalli, Amela Hercegovac, Ruslan Al-Ali, Catarina Pereira, Omid Paknia, Uros Hladnik, Peter Bauer, Jorge Pinto Basto, Aida M. Bertoli-Avella
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100833- (2023)
Purpose: With this study, we aimed to explore the gene-disease relationship (GDR) evidence for 109 gene-disease pairs and the significance of a large Biodatabank for this classification. Methods: The Clinical Genome Resource (ClinGen) Clinical Validi
Externí odkaz:
https://doaj.org/article/5646c2cad13543d692abf4b0e83ef3f2
Autor:
Giulia Babbi, Pier Luigi Martelli, Giuseppe Profiti, Samuele Bovo, Castrense Savojardo, Rita Casadio
Publikováno v:
BMC Genomics, Vol 18, Iss S5, Pp 25-34 (2017)
Abstract Background Genetic investigations, boosted by modern sequencing techniques, allow dissecting the genetic component of different phenotypic traits. These efforts result in the compilation of lists of genes related to diseases and show that an
Externí odkaz:
https://doaj.org/article/777fad2d498249e7896608c4ca735efe
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
MiRNAs are small non-coding regulatory RNAs which are associated with multiple diseases. Increasing evidence has shown that miRNAs play important roles in various biological and physiological processes. Therefore, the identification of potential miRN
Externí odkaz:
https://doaj.org/article/d3c0b8e6ff8f4c9ea21302eb626235c1
Autor:
Albert Salas-Huetos, Frank Tüttelmann, Antoni Riera-Escamilla, Kenneth I. Aston, Moira K O'Bryan, Miguel J. Xavier, Corinna Friedrich, Joris A. Veltman, Brendan J Houston, Margot J. Wyrwoll, Liina Nagirnaja, Manon S. Oud, Donald F. Conrad, Csilla Krausz
Publikováno v:
Human Reproduction Update
BACKGROUND Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and monogenic causes. Approximately 4% of all infertile men are now diagnosed with a gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e19849cbef0f22dba41c28b5331a1f00
https://doi.org/10.1093/humupd/dmab030
https://doi.org/10.1093/humupd/dmab030
Autor:
Annelore Van Der Kelen, Özlem Okutman, Elodie Javey, Münevver Serdarogullari, Charlotte Janssens, Manjusha S Ghosh, Bart J H Dequeker, Florence Perold, Claire Kastner, Emmanuelle Kieffer, Ingrid Segers, Alexander Gheldof, Frederik J Hes, Karen Sermon, Willem Verpoest, Stéphane Viville
Publikováno v:
Human reproduction update.
BACKGROUND As in other domains of medicine, high-throughput sequencing methods have led to the identification of an ever-increasing number of gene variants in the fields of both male and female infertility. The increasing number of recently identifie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a01fda61779bee7a38846cbe437b21c
https://pubmed.ncbi.nlm.nih.gov/36571510
https://pubmed.ncbi.nlm.nih.gov/36571510
Akademický článek
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Akademický článek
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