Papers matching “next-generation sequencing” 22
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Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +94 more
15citations -
Intra-tumoral genomic heterogeneity in rectal cancer: mutational status is dependent on preoperative biopsy depth and location.2020 Research Square preprint Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Floris A. Vuijk, Carlijn van de Water, Shannon van Lent - van Vliet, Maxime J.M. van der Valk, Femke Simmer, Cornelis J.�H. van de Velde, +3 more
0citations -
Improved pathogen identification in sepsis or septic shock by clinical metagenomic sequencing2025 medRxiv preprint Biochemistry, Genetics and Molecular Biology Bacterial Identification and Susceptibility Testing Open access
Thorsten Brenner, Sebastian Decker, Yevhen Vainshtein, Silke Grumaz, Mehdi Manoochehri, Manuel Feißt, +21 more
0citations -
The NR5A1/SF-1 variant p.Gly146Ala cannot explain the phenotype of individuals with a difference of sex development2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Idoia Martinez de la Piscina, Chrysanthi Kouri, Josu Aurrekoetxea, Mirian Sanchez, Rawda Naamneh Elzenaty, Kay‐Sara Sauter, +12 more
0citations -
Human pluripotent stem cell-derived kidney organoids for personalized congenital and idiopathic nephrotic syndrome modeling2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Renal Diseases and Glomerulopathies Open access
Jitske Jansen, Bartholomeus T. van den Berge, Rutger J. H. Maas, Brigith K. Willemsen, Christoph Kuppe, Katharina C. Reimer, +20 more
9citations -
Cell-Surface RNA Forms Ternary Complex with RNA-Binding Proteins and Heparan Sulfate to Recruit Immune Receptors2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Zeshi Li, Bhagyashree S. Joshi, Ruud H. M. Wijdeven, Irene Santos‐Barriopedro, Milad Shademan, Eric Bos, +5 more
4citations -
Loss-of-function variants in the KCNQ5 gene are associated with genetic generalized epilepsies2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, +15 more
3citations -
Diversity and flexibility of algal endosymbionts in globally-distributed large benthic foraminifera2020 preprint Biochemistry, Genetics and Molecular Biology Protist diversity and phylogeny Open access
Martina de Freitas Prazeres, T. Edward Roberts, Shadrina Fildzah Ramadhani, Steve S. Doo, Christiane Schmidt, Marleen Stuhr, +1 more
2citations -
RGT: a toolbox for the integrative analysis of high throughput regulatory genomics data2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Chromatin Dynamics Open access
Zhijian Li, Chao‐Chung Kuo, Fabio Ticconi, Mina Shaigan, Eduardo Gade Gusmao, Manuel Allhoff, +3 more
2citations -
Genome-wide screen identifies host loci that modulate M. tuberculosis fitness in immunodivergent mice2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Tuberculosis Research and Epidemiology Open access
Rachel Katherine Meade, Jarukit Edward Long, Adrián Jinich, Kyu Young Rhee, David George Ashbrook, Robert Warren Williams, +2 more
0citations
22 results