Zobrazeno 1 - 10
of 128
pro vyhledávání: '"unique molecular identifier"'
Autor:
Julia Vetter, Jonathan Burghofer, Theodora Malli, Anna M. Lin, Gerald Webersinke, Markus Wiederstein, Stephan M. Winkler, Susanne Schaller
Publikováno v:
BioMedInformatics, Vol 4, Iss 2, Pp 1289-1307 (2024)
Background: In genomics, highly sensitive point mutation detection is particularly relevant for cancer diagnosis and early relapse detection. Next-generation sequencing combined with unique molecular identifiers (UMIs) is known to improve the mutatio
Externí odkaz:
https://doaj.org/article/1cbce76317354a29a363b753513ebce2
Autor:
Jonathan Bieler, Slawomir Kubik, Morgane Macheret, Christian Pozzorini, Adrian Willig, Zhenyu Xu
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-13 (2023)
Abstract Background Despite the wide variety of Next Generation Sequencing (NGS)-based methods, it remains challenging to detect mutations present at very low frequencies. This problem is particularly relevant in oncology, where the limiting amount o
Externí odkaz:
https://doaj.org/article/626b803cf7e44b31b593255e05908462
Autor:
Arnaud Lagarde, Grégory Mougel, Lucie Coppin, Magalie Haissaguerre, Lauriane Le Collen, Amira Mohamed, Marc Klein, Marie-Françoise Odou, Antoine Tabarin, Hedia Brixi, Thomas Cuny, Brigitte Delemer, Anne Barlier, Pauline Romanet
Publikováno v:
Endocrine Connections, Vol 11, Iss 11, Pp 1-8 (2022)
Purpose: Mosaicism is a feature of several inherited tumor syndromes. Only a few cases of mosaicism have been described in multiple endocrine neoplasia type 1 (MEN1). Next-generation sequencing (NGS) offers new possibilities for detecti ng mosaicism.
Externí odkaz:
https://doaj.org/article/950beb9810fc45259d37eaf1892dd502
Akademický článek
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Publikováno v:
Informatics in Medicine Unlocked, Vol 41, Iss , Pp 101307- (2023)
Next-generation sequencing (NGS) has been widely used for calling biological variants. The gold-standard methodology for accessing the ability of a computational method to call a specific variant is to perform NGS wet-lab experiments on samples known
Externí odkaz:
https://doaj.org/article/36c8aa691c4c44bbaffef4934d063518
Autor:
Asuka Hori, Hiroko Ogata-Kawata, Aiko Sasaki, Ken Takahashi, Kosuke Taniguchi, Ohsuke Migita, Akihiro Kawashima, Aikou Okamoto, Akihiko Sekizawa, Haruhiko Sago, Fumio Takada, Kazuhiko Nakabayashi, Kenichiro Hata
Publikováno v:
BMC Research Notes, Vol 14, Iss 1, Pp 1-7 (2021)
Abstract Objective We aimed to simplify our fetal RHD genotyping protocol by changing the method to attach Illumina’s sequencing adaptors to PCR products from the ligation-based method to a PCR-based method, and to improve its reliability and robus
Externí odkaz:
https://doaj.org/article/6ef6fc351f874c568de86fe1c3e83f01
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Recent advances in single cell RNA sequencing (scRNA-seq) technologies have been invaluable in the study of the diversity of cancer cells and the tumor microenvironment. While scRNA-seq platforms allow processing of a high number of cells, uneven rea
Externí odkaz:
https://doaj.org/article/5aaf248867914b4e933380b0059d5619
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
HLA typing provides essential results for stem cell and solid organ transplants, as well as providing diagnostic benefits for various rheumatology, gastroenterology, neurology, and infectious diseases. It is becoming increasingly clear that understan
Externí odkaz:
https://doaj.org/article/7e197cf3e9f542c7be1f0b8b6c79631c
Autor:
Malene Støchkel Frank, Janina Fuß, Tim Alexander Steiert, Greta Streleckiene, Julie Gehl, Michael Forster
Publikováno v:
BioTechniques, Vol 70, Iss 4, Pp 226-232 (2021)
Liquid biopsies are a minimally invasive method to diagnose and longitudinally monitor tumor mutations in patients when tissue biopsies are difficult (e.g., in lung cancer). The percentage of cell-free tumor DNA in blood plasma ranges from more than
Externí odkaz:
https://doaj.org/article/629f6e87f4564cb6a6ee494da7cc102c